All Genetic Disorder Tests

Genetic Disorder Lab Tests and health information

Do you have concerns about a genetic disorder? 

We provide genetic and laboratory testing to determine if you have a hereditary issue, assist in illness diagnosis, and monitor therapeutic drugs and cancer prevention. 

We can assist you in obtaining answers to your questions. Our lab testing is intended for people concerned about inheriting a disease. We provide lab testing to see whether you have an inherited condition, help with sickness diagnosis, and track treatment medications and cancer prevention. Our test findings are simple to comprehend and can assist you in making healthcare decisions. 

If your family has a known genetic mutation, our lab testing will reveal whether or not you have it as well. People with specific diseases, such as cystic fibrosis (CF) or sickle cell disease (SCD), who would otherwise be unaware of their risk status, can start treatment before symptoms appear, potentially saving their lives. In some circumstances, knowing one's carrier status enables people who are in danger of passing on a serious disease to take efforts now, such as prenatal diagnosis or prenatal testing, to prevent having children with the disease in the future. And knowing one's carrier status may sometimes make people feel safer when making crucial life decisions like establishing a family by giving them a piece of mind about what lies ahead for themselves and their offspring down the line. In light of this, we believe that our services can empower people affected by inherited diseases. 

You won't find another company that provides high-quality services at such a low cost. We can provide information about your health through our lab tests, allowing you to take control of your life. It's essential to understand what's going on within your body so you can make an informed decision about how to manage it better - let us assist you!

To get the right test for you, choose from the selections below.

For more information on What Are Genetic Tests for In Targeted Cancer Therapy?, click here.


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Description: Amylase is a blood test that is used to measure the amount of amylase in the blood’s serum. It is used to assess for and detect a pancreatic disorder.

Also Known As: Amy Test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is an Amylase test ordered?

When a person displays symptoms of a pancreatic disease, a blood amylase test may be conducted.

  • Abdominal or back pain that is severe
  • Fever
  • Appetite loss.
  • Nausea

A urine amylase test may be requested in conjunction with or after a blood amylase test. A health practitioner may conduct one or both of these tests on a regular basis to evaluate the success of treatment and see whether amylase levels are increasing or decreasing over time.

What does an Amylase blood test check for?

Amylase is one of numerous pancreatic enzymes that aid in carbohydrate digestion. This test detects the presence of amylase in the blood.

Amylase is produced from the pancreas into the duodenum, the first region of the small intestine, where it aids in the digestion of carbohydrates. Other organs, including the salivary glands, generate it as well.

Amylase is normally found in modest amounts in the blood and urine. Increased levels of amylase are released into the blood when pancreatic cells are harmed, as in pancreatitis, or when the pancreatic duct is obstructed by a gallstone or, in rare situations, a pancreatic tumor. This raises amylase levels in the blood.

Lab tests often ordered with an Amylase test:

  • Lipase
  • Trypsin
  • Trypsinogen

Conditions where an Amylase test is recommended:

  • Cystic Fibrosis
  • Pancreatic Cancer
  • Pancreatic Diseases
  • Pancreatitis

How does my health care provider use an Amylase test?

An amylase test is used to identify and track acute pancreatitis. It's frequently ordered in conjunction with a lipase test. It can also be used to detect and track chronic pancreatitis and other pancreas-related conditions.

A urine amylase test may be requested as well. Its level will usually correspond to blood amylase concentrations, but the rise and decrease will occur later. A urine creatinine clearance test may be ordered in conjunction with a urine amylase test to determine the ratio of amylase to creatinine filtered by the kidneys. Because poor kidney function might result in a decreased rate of amylase clearance, this ratio is used to assess renal function.

An amylase test on peritoneal fluid may be used to assist diagnose pancreatitis in some instances, such as when there is a buildup of fluid in the abdomen.

Amylase tests are often used to track the progress of pancreatic cancer treatment and after gallstone resection that has resulted in gallbladder attacks.

What do my Amylase test results mean?

A high level of amylase in the blood may suggest the presence of a pancreas problem.

Amylase levels in the blood often rise to 4 to 6 times higher than the highest reference value, also known as the upper limit of normal, in acute pancreatitis. The increase happens within 4 to 8 hours following a pancreas damage and usually lasts until the cause is effectively treated. In a few days, the amylase levels will return to normal.

Amylase levels in chronic pancreatitis are initially fairly increased, although they frequently decline over time as the pancreas deteriorates. Returning to normal levels may not signal that the source of damage has been rectified in this scenario. The size of the amylase rise does not indicate the severity of pancreatic illness.

Amylase levels may also be elevated in persons who have pancreatic duct obstruction or pancreatic cancer.

Urine amylase levels rise in lockstep with blood amylase levels and remain elevated for several days after blood levels have returned to normal.

A high amount of amylase in the peritoneal fluid can indicate acute pancreatitis, but it can also indicate other abdominal problems including a clogged intestine or poor blood supply to the intestines.

A low amylase level in the blood and urine of a person with pancreatitis symptoms could indicate that the amylase-producing cells in the pancreas have been permanently damaged. Reduced levels can also be caused by renal illness or pregnancy toxemia.

Increased blood amylase levels along with normal to low urine amylase levels could indicate the presence of a macroamylase, a harmless compound of amylase and other proteins that builds up in the bloodstream.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


This test detects 3 mutations which account for approximately 90% of the BRCA1 and BRCA2 mutations found in Ashkenazi Jews.

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Description: Ceruloplasmin is a blood test that measures that amount of Ceruloplasmin in the blood’s serum. Ceruloplasmin, or Copper Oxide, is a protein that is created in the liver and is used to transport copper from the liver to the parts of the body that need it, including the blood.

Also Known As: Copper Oxide Test, Wilson’s Disease Test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is a Ceruloplasmin test ordered?

When somebody has symptoms that a health practitioner suspects are due to Wilson disease, a ceruloplasmin test may be ordered alone or in combination with blood and 24-hour urine copper testing.

What does a Ceruloplasmin blood test check for?

Ceruloplasmin is a copper-containing enzyme that aids in iron metabolism in the body. The level of ceruloplasmin in the blood is measured with this test.

Copper is a vital mineral that regulates iron metabolism, connective tissue creation, cellular energy production, and nervous system function. The intestines absorb it from meals and liquids, and it is subsequently transferred to the liver, where it is stored or used to make a variety of enzymes.

To make ceruloplasmin, the liver binds copper to a protein and then releases it into the bloodstream. Ceruloplasmin binds about 95 percent of the copper in the blood. As a result, the ceruloplasmin test can be performed in conjunction with one or more copper tests to assist diagnose Wilson disease, a genetic illness in which the liver, brain, and other organs store too much copper.

Lab tests often ordered with a Ceruloplasmin test:

  • Copper

Conditions where a Ceruloplasmin test is recommended:

  • Wilson’s Disease
  • Liver Diseases

How does my health care provider use a Ceruloplasmin test?

Wilson disease is a rare genetic ailment characterized by excessive copper accumulation in the liver, brain, and other organs, as well as low levels of ceruloplasmin. Ceruloplasmin testing is performed in conjunction with blood and/or urine copper assays to assist diagnosis Wilson disease.

Copper is a mineral that plays an important role in the human body. Ceruloplasmin binds about 95 percent of the copper in the blood. In an unbound state, just a minimal quantity of copper is present in the blood.

A ceruloplasmin test may be ordered in conjunction with a copper test to assist diagnose problems in copper metabolism, copper deficiency, or Menkes kinky hair syndrome, a rare genetic condition.

What do my Ceruloplasmin test results mean?

Ceruloplasmin levels are frequently tested in conjunction with copper testing because they are not indicative of a specific illness.

Wilson disease can be identified by low ceruloplasmin and blood copper levels, as well as high copper levels in the urine.

About 5% of persons with Wilson disease who have neurological symptoms, as well as up to 40% of those with hepatic symptoms, especially if they are critically unwell, will have normal ceruloplasmin levels.

The person tested may have a copper deficiency if ceruloplasmin, urine, and/or blood copper values are low.

Anything that affects the body's ability to metabolize copper or the supply of copper has the potential to impact blood ceruloplasmin and copper levels.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.



Description: A CBC or Complete Blood Count with Differential and Platelets test is a blood test that measures many important features of your blood’s red and white blood cells and platelets. A Complete Blood Count can be used to evaluate your overall health and detect a wide variety of conditions such as infection, anemia, and leukemia. It also looks at other important aspects of your blood health such as hemoglobin, which carries oxygen. 

Also Known As: CBC test, Complete Blood Count Test, Total Blood Count Test, CBC with Differential and Platelets test, Hemogram test  

Collection Method: Blood Draw 

Specimen Type: Whole Blood 

Test Preparation: No preparation required 

When is a Complete Blood Count test ordered?  

The complete blood count (CBC) is an extremely common test. When people go to the doctor for a standard checkup or blood work, they often get a CBC. Suppose a person is healthy and their results are within normal ranges. In that case, they may not need another CBC unless their health condition changes, or their healthcare professional believes it is necessary. 

When a person exhibits a variety of signs and symptoms that could be connected to blood cell abnormalities, a CBC may be done. A health practitioner may request a CBC to help diagnose and determine the severity of lethargy or weakness, as well as infection, inflammation, bruises, or bleeding. 

When a person is diagnosed with a disease that affects blood cells, a CBC is frequently done regularly to keep track of their progress. Similarly, if someone is being treated for a blood condition, a CBC may be performed on a regular basis to see if the treatment is working. 

Chemotherapy, for example, can influence the generation of cells in the bone marrow. Some drugs can lower WBC counts in the long run. To monitor various medication regimens, a CBC may be required on a regular basis. 

What does a Complete Blood Count test check for? 

The complete blood count (CBC) is a blood test that determines the number of cells in circulation. White blood cells (WBCs), red blood cells (RBCs), and platelets (PLTs) are three types of cells suspended in a fluid called plasma. They are largely created and matured in the bone marrow and are released into the bloodstream when needed under normal circumstances. 

A CBC is mainly performed with an automated machine that measures a variety of factors, including the number of cells present in a person's blood sample. The findings of a CBC can reveal not only the quantity of different cell types but also the physical properties of some of the cells. 

Significant differences in one or more blood cell populations may suggest the presence of one or more diseases. Other tests are frequently performed to assist in determining the reason for aberrant results. This frequently necessitates visual confirmation via a microscope examination of a blood smear. A skilled laboratory technician can assess the appearance and physical features of blood cells, such as size, shape, and color, and note any anomalies. Any extra information is taken note of and communicated to the healthcare provider. This information provides the health care provider with further information about the cause of abnormal CBC results. 

The CBC focuses on three different types of cells: 

WBCs (White Blood Cells) 

The body uses five different types of WBCs, also known as leukocytes, to keep itself healthy and battle infections and other types of harm. The five different leukocytes are eosinophiles, lymphocytes, neutrophiles, basophils, and monocytes. They are found in relatively steady numbers in the blood. Depending on what is going on in the body, these values may momentarily rise or fall. An infection, for example, can cause the body to manufacture more neutrophils in order to combat bacterial infection. The amount of eosinophils in the body may increase as a result of allergies. A viral infection may cause an increase in lymphocyte production. Abnormal (immature or mature) white cells multiply fast in certain illness situations, such as leukemia, raising the WBC count. 

RBCs (Red Blood Cells) 

The bone marrow produces red blood cells, also known as erythrocytes, which are transferred into the bloodstream after maturing. Hemoglobin, a protein that distributes oxygen throughout the body, is found in these cells. Because RBCs have a 120-day lifespan, the bone marrow must constantly manufacture new RBCs to replace those that have aged and disintegrated or have been lost due to hemorrhage. A variety of diseases, including those that cause severe bleeding, can alter the creation of new RBCs and their longevity. 

The CBC measures the number of RBCs and hemoglobin in the blood, as well as the proportion of RBCs in the blood (hematocrit), and if the RBC population appears to be normal. RBCs are generally homogeneous in size and shape, with only minor differences; however, considerable variances can arise in illnesses including vitamin B12 and folate inadequacy, iron deficiency, and a range of other ailments. Anemia occurs when the concentration of red blood cells and/or the amount of hemoglobin in the blood falls below normal, resulting in symptoms such as weariness and weakness. In a far smaller percentage of cases, there may be an excess of RBCs in the blood (erythrocytosis or polycythemia). This might obstruct the flow of blood through the tiny veins and arteries in extreme circumstances. 

Platelets 

Platelets, also known as thrombocytes, are small cell fragments that aid in the regular clotting of blood. A person with insufficient platelets is more likely to experience excessive bleeding and bruises. Excess platelets can induce excessive clotting or excessive bleeding if the platelets are not operating properly. The platelet count and size are determined by the CBC. 

Lab tests often ordered with a Complete Blood Count test: 

  • Reticulocytes
  • Iron and Total Iron Binding Capacity
  • Basic Metabolic Panel
  • Comprehensive Metabolic Panel
  • Lipid Panel
  • Vitamin B12 and Folate
  • Prothrombin with INR and Partial Thromboplastin Times
  • Sed Rate (ESR)
  • C-Reactive Protein
  • Epstein-Barr Virus
  • Von Willebrand Factor Antigen

Conditions where a Complete Blood Count test is recommended: 

  • Anemia
  • Aplastic Anemia
  • Iron Deficiency Anemia
  • Vitamin B12 and Folate Deficiency
  • Sickle Cell Anemia
  • Heart Disease
  • Thalassemia
  • Leukemia
  • Autoimmune Disorders
  • Cancer
  • Bleeding Disorders
  • Inflammation
  • Epstein-Barr Virus
  • Mononucleosis

Commonly Asked Questions: 

How does my health care provider use a Complete Blood Count test? 

The complete blood count (CBC) is a common, comprehensive screening test used to measure a person's overall health status.  

What do my Complete Blood Count results mean? 

A low Red Blood Cell Count, also known as anemia, could be due many different causes such as chronic bleeding, a bone marrow disorder, and nutritional deficiency just to name a few. A high Red Blood Cell Count, also known as polycythemia, could be due to several conditions including lung disease, dehydration, and smoking. Both Hemoglobin and Hematocrit tend to reflect Red Blood Cell Count results, so if your Red Blood Cell Count is low, your Hematocrit and Hemoglobin will likely also be low. Results should be discussed with your health care provider who can provide interpretation of your results and determine the appropriate next steps or lab tests to further investigate your health. 

What do my Differential results mean? 

A low White Blood Cell count or low WBC count, also known as leukopenia, could be due to a number of different disorders including autoimmune issues, severe infection, and lymphoma. A high White Blood Cell count, or high WBC count, also known as leukocytosis, can also be due to many different disorders including infection, leukemia, and inflammation. Abnormal levels in your White Blood Cell Count will be reflected in one or more of your different white blood cells. Knowing which white blood cell types are affected will help your healthcare provider narrow down the issue. Results should be discussed with your health care provider who can provide interpretation of your results and determine the appropriate next steps or lab tests to further investigate your health. 

What do my Platelet results mean? 

A low Platelet Count, also known as thrombocytopenia, could be due to a number of different disorders including autoimmune issues, viral infection, and leukemia. A high Platelet Count, also known as Thrombocytosis, can also be due to many different disorders including cancer, iron deficiency, and rheumatoid arthritis. Results should be discussed with your health care provider who can provide interpretation of your results and determine the appropriate next steps or lab tests to further investigate your health. 

NOTE: Only measurable biomarkers will be reported. Certain biomarkers do not appear in healthy individuals. 

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.

Reflex Parameters for Manual Slide Review
  Less than  Greater Than 
WBC  1.5 x 10^3  30.0 x 10^3 
Hemoglobin  7.0 g/dL  19.0 g/dL 
Hematocrit  None  75%
Platelet  100 x 10^3  800 x 10^3 
MCV  70 fL  115 fL 
MCH  22 pg  37 pg 
MCHC  29 g/dL  36.5 g/dL 
RBC  None  8.00 x 10^6 
RDW  None  21.5
Relative Neutrophil %  1% or ABNC <500  None 
Relative Lymphocyte %  1% 70%
Relative Monocyte %  None  25%
Eosinophil  None  35%
Basophil  None  3.50%
     
Platelet  <75 with no flags,
>100 and <130 with platelet clump flag present,
>1000 
Instrument Flags Variant lymphs, blasts,
immature neutrophils,  nRBC’s, abnormal platelets,
giant platelets, potential interference
     
The automated differential averages 6000+ cells. If none of the above parameters are met, the results are released without manual review.
CBC Reflex Pathway

Step 1 - The slide review is performed by qualified Laboratory staff and includes:

  • Confirmation of differential percentages
  • WBC and platelet estimates, when needed
  • Full review of RBC morphology
  • Comments for toxic changes, RBC inclusions, abnormal lymphs, and other
  • significant findings
  • If the differential percentages agree with the automated counts and no abnormal cells are seen, the automated differential is reported with appropriate comments

Step 2 - The slide review is performed by qualified Laboratory staff and includes: If any of the following are seen on the slide review, Laboratory staff will perform a manual differential:

  • Immature, abnormal, or toxic cells
  • nRBC’s
  • Disagreement with automated differential
  • Atypical/abnormal RBC morphology
  • Any RBC inclusions

Step 3 If any of the following are seen on the manual differential, a Pathologist will review the slide:

  • WBC<1,500 with abnormal cells noted
  • Blasts/immature cells, hairy cell lymphs, or megakaryocytes
  • New abnormal lymphocytes or monocytes
  • Variant or atypical lymphs >15%
  • Blood parasites
  • RBC morphology with 3+ spherocytes, RBC inclusions, suspect Hgb-C,
  • crystals, Pappenheimer bodies or bizarre morphology
  • nRBC’s

Description: A Comprehensive Metabolic Panel or CMP is a blood test that is a combination of a Basic Metabolic Panel, a Liver Panel, and electrolyte panel, and is used to screen for, diagnose, and monitor a variety of conditions and diseases such as liver disease, diabetes, and kidney disease. 

Also Known As: CMP, Chem, Chem-14, Chem-12, Chem-21, Chemistry Panel, Chem Panel, Chem Screen, Chemistry Screen, SMA 12, SMA 20, SMA 21, SMAC, Chem test

Collection Method: 

Blood Draw 

Specimen Type: 

Serum 

Test Preparation: 

9-12 hours fasting is preferred. 

When is a Comprehensive Metabolic Panel test ordered:  

A CMP is frequently requested as part of a lab test for a medical evaluation or yearly physical. A CMP test consists of many different tests that give healthcare providers a range of information about your health, including liver and kidney function, electrolyte balance, and blood sugar levels. To confirm or rule out a suspected diagnosis, abnormal test results are frequently followed up with other tests that provide a more in depth or targeted analysis of key areas that need investigating. 

What does a Comprehensive Metabolic Panel blood test check for? 

The complete metabolic panel (CMP) is a set of 20 tests that provides critical information to a healthcare professional about a person's current metabolic status, check for liver or kidney disease, electrolyte and acid/base balance, and blood glucose and blood protein levels. Abnormal results, particularly when they are combined, can suggest a problem that needs to be addressed. 

The following tests are included in the CMP: 

  • Albumin: this is a measure of Albumin levels in your blood. Albumin is a protein made by the liver that is responsible for many vital roles including transporting nutrients throughout the body and preventing fluid from leaking out of blood vessels. 

  • Albumin/Globulin Ratio: this is a ratio between your total Albumin and Globulin  

  • Alkaline Phosphatase: this is a measure of Alkaline phosphatase or ALP in your blood. Alkaline phosphatase is a protein found in all body tissues, however the ALP found in blood comes from the liver and bones. Elevated levels are often associated with liver damage, gallbladder disease, or bone disorder. 

  • Alt: this is a measure of Alanine transaminase or ALT in your blood. Alanine Aminotransferase is an enzyme found in the highest amounts in the liver with small amounts in the heart and muscles. Elevated levels are often associated with liver damage. 

  • AST: this is a measure of Aspartate Aminotransferase or AST. Aspartate Aminotransferase is an enzyme found mostly in the heart and liver, with smaller amounts in the kidney and muscles. Elevated levels are often associated with liver damage. 

  • Bilirubin, Total: this is a measure of bilirubin in your blood. Bilirubin is an orange-yellowish waste product produced from the breakdown of heme which is a component of hemoglobin found in red blood cells. The liver is responsible for removal of bilirubin from the body. 

  • Bun/Creatinine Ratio: this is a ratio between your Urea Nitrogen (BUN) result and Creatinine result.  

  • Calcium: this is a measurement of calcium in your blood. Calcium is the most abundant and one of the most important minerals in the body as it essential for proper nerve, muscle, and heart function. 

  • Calcium: is used for blood clot formation and the formation and maintenance of bones and teeth. 

  • Carbon Dioxide: this is a measure of carbon dioxide in your blood. Carbon dioxide is a negatively charged electrolyte that works with other electrolytes such as chloride, potassium, and sodium to regulate the body’s acid-base balance and fluid levels.  

  • Chloride: this is a measure of Chloride in your blood. Chloride is a negatively charged electrolyte that works with other electrolytes such as potassium and sodium to regulate the body’s acid-base balance and fluid levels. 

  • Creatinine: this is a measure of Creatinine levels in your blood. Creatinine is created from the breakdown of creatine in your muscles and is removed from your body by the kidneys. Elevated creatinine levels are often associated with kidney damage. 

  • Egfr African American: this is a measure of how well your kidneys are functioning. Glomeruli are tiny filters in your kidneys that filter out waste products from your blood for removal while retaining important substances such as nutrients and blood cells. 

  • Egfr Non-Afr. American: this is a measure of how well your kidneys are functioning. Glomeruli are tiny filters in your kidneys that filter out waste products from your blood for removal while retaining important substances such as nutrients and blood cells. 

  • Globulin: this is a measure of all blood proteins in your blood that are not albumin. 

  • Glucose: this is a measure of glucose in your blood. Glucose is created from the breakdown of carbohydrates during digestion and is the body’s primary source of energy. 

  • Potassium: this is a measure of Potassium in your blood. Potassium is an electrolyte that plays a vital role in cell metabolism, nerve and muscle function, and transport of nutrients into cells and removal of wastes products out of cells. 

  • Protein, Total: this is a measure of total protein levels in your blood. 
    Sodium: this is a measure of Sodium in your blood. Sodium is an electrolyte that plays a vital role in nerve and muscle function. 

  • Urea Nitrogen (Bun): this is a measure of Urea Nitrogen in your blood, also known as Blood UreaNitrogen (BUN). Urea is a waste product created in the liver when proteins are broken down into amino acids. Elevated levels are often associated with kidney damage. 

Lab tests often ordered with a Comprehensive Metabolic Panel test: 

  • Complete Blood Count with Differential and Platelets
  • Iron and Total Iron Binding Capacity
  • Lipid Panel
  • Vitamin B12 and Folate
  • Prothrombin with INR and Partial Thromboplastin Times
  • Sed Rate (ESR)
  • C-Reactive Protein

Conditions where a Comprehensive Metabolic Panel test is recommended: 

  • Diabetes
  • Kidney Disease
  • Liver Disease
  • Hypertension

Commonly Asked Questions: 

How does my health care provider use a Comprehensive Metabolic Panel test? 

The comprehensive metabolic panel (CMP) is a broad screening tool for assessing organ function and detecting diseases like diabetes, liver disease, and kidney disease. The CMP test may also be requested to monitor known disorders such as hypertension and to check for any renal or liver-related side effects in persons taking specific drugs. If a health practitioner wants to follow two or more separate CMP components, the full CMP might be ordered because it contains more information. 

What do my Comprehensive Metabolic Panel test results mean? 

The results of the tests included in the CMP are usually analyzed together to look for patterns. A single abnormal test result may indicate something different than a series of abnormal test findings. A high result on one of the liver enzyme tests, for example, is not the same as a high result on several liver enzyme tests. 

Several sets of CMPs, frequently performed on various days, may be examined to gain insights into the underlying disease and response to treatment, especially in hospitalized patients. 

Out-of-range findings for any of the CMP tests can be caused by a variety of illnesses, including kidney failure, breathing issues, and diabetes-related complications, to name a few. If any of the results are abnormal, one or more follow-up tests are usually ordered to help determine the reason and/or establish a diagnosis. 

Is there anything else I should know? 

A wide range of prescription and over-the-counter medications can have an impact on the results of the CMP's components. Any medications you're taking should be disclosed to your healthcare professional. Similarly, it is critical to provide a thorough history because many other circumstances can influence how your results are interpreted. 

What's the difference between the CMP and the BMP tests, and why would my doctor choose one over the other? 

The CMP consists of 14 tests, while the basic metabolic panel (BMP) is a subset of those with eight tests. The liver (ALP, ALT, AST, and bilirubin) and protein (albumin and total protein) tests are not included. If a healthcare provider wants a more thorough picture of a person's organ function or to check for specific illnesses like diabetes or liver or kidney disease, he or she may prescribe a CMP rather than a BMP. 

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.

Please note the following regarding BUN/Creatinine ratio: 

The lab does not report the calculation for the BUN/Creatinine Ratio unless one or both biomarkers’ results fall out of the published range. 

If you still wish to see the value, it's easy to calculate. Simply take your Urea Nitrogen (BUN) result and divide it by your Creatinine result.  

As an example, if your Urea Nitrogen result is 11 and your Creatinine result is 0.86, then you would divide 11 by 0.86 and get a BUN/Creatinine Ratio result of 12.79. 


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Description: Copper is a blood test that measures the amount of copper in the blood's plasma. Copper levels in the blood can help to diagnose Wilson's Disease.

Also Known As: Cu Test, Blood Copper Test, Free Copper Test, Hepatic Copper Test, Copper Serum Test, Copper Plasma Test, Copper Blood Test

Collection Method: Blood Draw

Specimen Type: Plasma or Serum

Test Preparation: No preparation required

When is a Copper test ordered?

When a health practitioner suspects Wilson disease, excess copper storage, or copper poisoning, one or more copper tests are requested along with ceruloplasmin.

When copper and ceruloplasmin results are abnormal or inconclusive, a hepatic copper test may be conducted to further evaluate copper storage.

What does a Copper blood test check for?

Copper is an important mineral that the body uses to make enzymes. These enzymes are involved in the regulation of iron metabolism, the development of connective tissue, cellular energy production, the production of melanin, and nervous system function. This test determines how much copper is present in the blood, urine, or liver.

Nuts, chocolate, mushrooms, seafood, whole grains, dried fruits, and liver are all high in copper. Copper may be absorbed into drinking water as it passes through copper pipes, and copper may be absorbed into food as it is cooked or served on copper dishes. Copper is absorbed from food or liquids in the intestines, converted to a non-toxic form by binding it to a protein, and transported to the liver in normal circumstances. To make the enzyme ceruloplasmin, the liver saves some copper and binds the remainder to another protein called apoceruloplasmin. Ceruloplasmin binds about 95 percent of the copper in the blood, with the rest attached to other proteins like albumin. In a free condition, only a little amount is present in the blood. Excess copper is excreted by the liver in the bile, which is then excreted by the body in the feces. Copper is also excreted in the urine in small amounts.

Copper excess and deficiency are uncommon. Wilson disease is a rare genetic ailment that causes the liver, brain, and other organs to store too much copper. Excess copper can arise when a person is exposed to and absorbs high amounts of copper in a short period of time or little amounts over a long period of time.

Copper deficiency can arise in patients with severe malabsorption diseases such cystic fibrosis and celiac disease, as well as infants who are exclusively fed cow-milk formulas.

Menkes kinky hair syndrome is a rare X-linked hereditary disorder that causes copper shortage in the brain and liver of affected babies. Seizures, delayed development, aberrant artery growth in the brain, and unique gray brittle kinky hair are all symptoms of the condition, which mostly affects men.

Lab tests often ordered with a Copper test:

  • Ceruloplasmin
  • Heavy Metals
  • ACTH
  • Aldosterone
  • 17-Hydroprogesterone
  • Growth Hormone

Conditions where a Copper test is recommended:

  • Wilson Disease
  • Malnutrition

How does my health care provider use a Copper test?

Copper testing is largely used to detect Wilson disease, a rare genetic ailment in which the liver, brain, and other organs accumulate an excessive amount of copper. A copper test is less usually used to detect copper excess caused by another ailment, to diagnose a copper deficit, or to track treatment for one of these conditions.

Copper is a necessary mineral, but too much of it can be harmful. The majority of it is bound to the enzyme ceruloplasmin in the blood, leaving only a little quantity "free" or unbound.

A whole blood copper test is usually ordered in conjunction with a ceruloplasmin level. If the findings of these tests are abnormal or ambiguous, a 24-hour urine copper test to monitor copper elimination and/or a copper test on a liver biopsy to check copper storage in the liver may be conducted.

A free blood copper test is sometimes ordered as well. If Wilson disease is suspected, genetic testing for mutations in the ATP7B gene may be undertaken. However, these tests are only available in a restricted number of locations and are usually carried out in specialized reference or research laboratories.

A copper test may be used to identify Menkes kinky hair syndrome, a rare inherited copper transport failure condition.

What do my Copper test results mean?

Copper test findings are frequently linked to ceruloplasmin levels and considered in context. Copper results that are abnormal are not indicative of a specific illness; rather, they signal that more research is needed. Because ceruloplasmin is an acute phase reactant, it might be raised if inflammation or severe infections are present, making interpretation difficult. Ceruloplasmin and copper levels rise during pregnancy, as well as with the use of estrogen and oral contraceptives.

Wilson disease is characterized by low blood copper concentrations, elevated urine copper levels, low ceruloplasmin levels, and increased liver copper.

Elevated copper concentrations in the blood and urine, as well as normal or increased ceruloplasmin levels, may suggest excessive copper exposure or be linked to disorders that reduce copper excretion, such as chronic liver disease, or release copper from tissues, such as acute hepatitis. Chronic diseases can cause an increase in hepatic copper levels.

Copper deficiency is indicated by lower copper concentrations in the blood and urine, as well as lower ceruloplasmin levels.

A normal hepatic copper test could mean that copper metabolism is normal, or that the distribution of copper in the liver is uneven, and that the sample isn't reflective of the person's health.

If a person is being treated for Wilson disease or copper toxicity with copper-binding medicines, their 24-hour urine copper levels may be high until their body copper stores are depleted. Copper concentrations in the blood and urine should return to normal over time.

If a person is being treated for a copper deficient disorder and their ceruloplasmin and total copper levels start to rise, the condition is likely responding to the treatment.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Copper is an essential element that is a cofactor of many enzymes. Copper metabolism is disturbed in Wilson's disease, Menkes disease, primary biliary cirrhosis, and Indian childhood cirrhosis. Urinary copper concentrations are also useful to monitor patients on chealation therapy

Copper is an essential element that is a cofactor of many enzymes. Copper metabolism is disturbed in Wilson's disease, Menkes disease, primary biliary cirrhosis, and Indian childhood cirrhosis. Copper concentrations increase in acute phase reactions and during the third trimester of pregnancy. Copper concentrations are decreased with nephrosis, malabsorption, and malnutrition. Copper concentrations are also useful to monitor patients, especially preterm newborns, on nutritional supplementation. Results of copper are often interpreted together with ceruloplasmin.


Clinical Significance

Copper is an essential element that is a cofactor of many enzymes. Copper metabolism is disturbed in Wilson's disease, Menkes disease, primary biliary cirrhosis, and Indian childhood cirrhosis. Copper concentrations increase in acute phase reactions. Copper concentrations are decreased with nephrosis, malabsorption, and malnutrition. Copper concentrations are also useful to monitor patients, especially preterm newborns, on nutritional supplementation. Results of copper are often interpreted together with ceruloplasmin.


The CFvantage® Cystic Fibrosis Expanded Screen analyzes 155 mutations that have been proven to cause Cystic Fibrosis. This panel includes the 23 mutations recommended by the American College of Obstetricians and Gynecologists (ACOG) for screening of all child bearing age women. ACOG also recommends that patients with a family history of Cystic Fibrosis, pregnant women with ultrasound finding that indicate an increased risk of Cystic Fibrosis (echogenic bowel or dilated loops of the bowl), and males with a family history of infertility should be offered this screen.


This test will identify approximately 90% of Cystic Fibrosis (CF) mutations in the Caucasian population, and 97% in the Ashkenazi Jewish population. For prenatal specimens, use test code 10226.

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Description: A Ferritin test is a blood test that measures Ferritin levels in your blood’s serum to evaluate the level of iron stored in your body.

Also Known As: Ferritin Serum Test, Ferritin Test, Ferritin Blood Test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is a Ferritin test ordered?

When a CBC test’s implies iron deficiency anemia due to small red blood cells or low hematocrit and hemoglobin levels, the ferritin test, and other iron tests, may be requested, even if other clinical symptoms have not yet arisen.

There are frequently no physical symptoms in the early stages of iron insufficiency. Symptoms rarely develop before hemoglobin falls below dangerous levels. However, when the iron deficit continues, symptoms emerge, prompting a doctor to order ferritin and other iron-related testing. The following are the most prevalent symptoms of iron deficiency anemia:

  • Chronic tiredness/fatigue
  • Weakness
  • Dizziness
  • Headaches
  • Skin that is pale

Shortness of breath, ringing in the ears, sleepiness, and irritability may occur as iron levels are reduced. Chest pain, headaches, limb pains, shock, and even heart failure may occur as the anemia worsens. Learning impairments can occur in children. There are some symptoms that are specific to iron deficiency, in addition to the usual signs of anemia. Pica, a burning feeling in the tongue or a smooth tongue, ulcers at the corners of the mouth, and spoon-shaped finger- and toe-nails are only a few of the symptoms.

When iron overload is suspected, a ferritin level may be requested. Iron overload symptoms differ from person to person and tend to worsen over time. They are caused by an excess of iron in the blood and tissues. Among the signs and symptoms are:

  • Joint discomfort
  • Weakness and exhaustion
  • Loss of weight
  • Energy deficiency
  • Pain in the abdomen
  • Suffering from a lack of sexual desire
  • Hair loss on the body
  • Congestive heart failure is an example of a cardiac issue

Other iron tests including a genetic test for hereditary hemochromatosis may be conducted to confirm the existence of iron excess.

What does a Ferritin blood test check for?

Ferritin is an iron-containing protein that stores iron in cells in its most basic form. The amount of total iron stored in the body is reflected in the little amount of ferritin released into the blood. This test determines how much ferritin is present in the blood.

About 70% of the iron consumed by the body is integrated into the hemoglobin of red blood cells in healthy humans. The remaining 30% is stored primarily as ferritin or hemosiderin, which is a combination of iron, proteins, and other elements. Hemosiderin and ferritin are typically found in the liver, although they can also be found in the bone marrow, spleen, and skeletal muscles.

Iron stores are depleted and ferritin levels fall when available iron is insufficient to meet the body's needs. This can happen owing to a lack of iron, poor absorption, or an increased need for iron, such as during pregnancy or if you have a condition that causes persistent blood loss. Before any indicators of iron shortage appear, significant loss of iron reserves may occur.

When the body absorbs more iron than it needs, iron storage and ferritin levels rise. Chronic iron absorption causes a gradual buildup of iron compounds in organs, which can eventually lead to organ malfunction and failure. Even on a typical diet, this happens in hemochromatosis, a hereditary disorder in which the body absorbs too much iron.

Lab tests often ordered with a Ferritin test:

  • Complete Blood Count
  • Iron Total
  • Iron Total and Total Iron binding capacity
  • Transferrin
  • Comprehensive Metabolic Panel
  • Lipid Panel
  • Zinc Protoporphyrin

Conditions where a Ferritin test is recommended:

  • Anemia
  • Hemochromatosis
  • Lead poisoning
  • Pregnancy
  • Restless Leg Syndrome

How does my health care provider use a Ferritin test?

The ferritin test is used to determine the amount of iron a person has in their body. To determine the existence and severity of iron shortage or iron overload, the test is sometimes ordered in conjunction with an iron test and a TIBC test.

One source of iron overload can be the use of iron supplements.

What does my ferritin lab test result mean?

Ferritin levels are frequently measured alongside other iron tests.

Ferritin levels are low in iron deficient people and high in people who have hemochromatosis or have had several blood transfusions.

Ferritin is an acute phase reactant that can be elevated in persons who have inflammation, liver illness, chronic infection, autoimmune disorders, or cancer. Ferritin isn't commonly utilized to detect or monitor these problems.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Ferritin, Iron and TIBC Panel contains: Ferritin, Iron and Total Iron Binding Capacity (TIBC)


Gaucher Disease, DNA Mutation Analysis 

Clinical Significance

Gaucher Disease is an autosomal recessive lysosomal storage disease that leads to the accumulation of glucocerebroside in tissues. Approximately 1 in 10 individuals of Ashkenazi Jewish heritage is a carrier. Treatment is available that averts severe morbidity and mortality.

Alternative Name(s)

Mutation Analysis Gaucher Disease


Description: Hemoglobin A1c is the protein Hemoglobin found in red blood cells, but with glucose attached to it. Hemoglobin A1c is used to check for and monitor diabetes as it shows average blood glucose levels over the past 2 to 3 months.

Also Known As: A1c Test, HbA1c Test, Glycohemoglobin Test, Glycated Hemoglobin Test, Glycosylated Hemoglobin Test, HbA1c Test

Collection Method: Blood Draw

Specimen Type: Whole Blood

Test Preparation: No preparation required

When is a Hemoglobin A1c test ordered?

A1c may be requested as part of a routine physical examination or when a practitioner suspects a patient of having diabetes due to characteristic signs or symptoms of high blood sugar, such as:

  • Increased thirst and fluid intake
  • Increased urination
  • Increase in hunger
  • Fatigue
  • Vision is hazy
  • Infections that take a long time to heal

Adults who are overweight and have the following additional risk factors may consider doing the A1c test:

  • Physically inactive
  • Diabetes in a first-degree relative
  • Race/ethnicity that is at high risk such as African Americans, Latinos, Native Americans, Asian Americans, and Pacific Islanders
  • Blood pressure that is high
  • A lipid profile that is abnormal.
  • Polycystic ovarian syndrome 
  • Cardiovascular disease 
  • Insulin resistance and other conditions links to insulin resistance

People who have not been diagnosed with diabetes but have been assessed to be at an increased risk of developing diabetes should have their A1c levels tested at least once a year.

Monitoring

The A1c test may be performed 2 to 4 times a year, depending on the type of diabetes a person has, how well their diabetes is controlled, and the healthcare provider's recommendations. If diabetics are fulfilling treatment goals and have stable glycemic control, the American Diabetes Association advises A1c testing at least twice a year. A1c may be ordered quarterly when someone is first diagnosed with diabetes or if control isn't good.

What does a Hemoglobin A1c blood test check for?

Hemoglobin A1c, often known as A1c or glycated hemoglobin, is hemoglobin that has been attached to glucose. By assessing the proportion of glycated hemoglobin, the A1c test determines the average quantity of glucose in the blood during the previous 2 to 3 months.

Hemoglobin is a protein present inside red blood cells that transports oxygen.

Glycated hemoglobin is generated in proportion to the amount of glucose in the blood. Once glucose attaches to hemoglobin, it stays there for the duration of the red blood cell's life, which is usually about 120 days. The most common kind of glycated hemoglobin is known as A1c. A1c is created on a daily basis and is gradually removed from the bloodstream as older RBCs die and younger RBCs replace them.

This test can be used to detect and diagnose diabetes, as well as the risk of developing it. According to the American Diabetes Association's standards of medical care in diabetes, diabetes can be diagnosed using either A1c or glucose.

This test can also be used to track the progress of a diabetic patient's treatment. It aids in determining how well a person's glucose levels have been controlled over time by medication. An A1c of less than 7% suggests good glucose control and a lower risk of diabetic complications for the majority of diabetics for monitoring reasons.

Lab tests often ordered with a Hemoglobin A1c test:

  • Complete Blood Count
  • Glucose
  • Frucstosamine
  • Albumin
  • Comprehensive Metabolic Panel
  • Microalbumin w/creatinine
  • Lipid panel

Conditions where a Hemoglobin A1c test is recommended:

  • Type 1 Diabetes
  • Type 2 Diabetes

How does my health care provider use a Hemoglobin A1c test?

Adults can use the hemoglobin A1c test to screen for and diagnose diabetes and prediabetes.

A fasting glucose or oral glucose tolerance test should be done to screen or diagnose diabetes in these instances.

The A1c test is also used to track diabetics' glucose control over time. Diabetics strive to maintain blood glucose levels that are as close to normal as feasible. This helps to reduce the risks of consequences associated with chronically high blood sugar levels, such as progressive damage to body organs such as the kidneys, eyes, cardiovascular system, and nerves. The result of the A1c test depicts the average quantity of glucose in the blood over the previous 2-3 months. This can help diabetics and their healthcare professionals determine whether the steps they're taking to control their diabetes are working or if they need to be tweaked.

A1c is a blood test that is usually used to help newly diagnosed diabetics identify how high their uncontrolled blood glucose levels have been in the previous 2-3 months. The test may be ordered multiple times throughout the control period, and then at least twice a year after that to ensure that good control is maintained.

What does my Hemoglobin A1c test result mean?

HbA1c levels is currently reported as a percentage for monitoring glucose control, and it is suggested that most diabetics try to keep their hemoglobin A1c below 7%. The closer diabetics can keep their A1c to the therapeutic objective of less than 7% without experiencing abnormally low blood glucose, the better their diabetes is controlled. The risk of problems rises as the A1c rises.

However, a person with type 2 diabetes may have an A1c goal set by their healthcare professional. The length of time since diagnosis, the presence of other diseases as well as diabetes complications, the risk of hypoglycemia complications, life expectancy, and whether or not the person has a support system and healthcare resources readily available are all factors that may influence the goal.

For example, a person with heart disease who has had type 2 diabetes for many years without diabetic complications may have a higher A1c target set by their healthcare provider, whereas someone who is otherwise healthy and newly diagnosed may have a lower target set by their healthcare provider as long as low blood sugar is not a significant risk.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Hereditary Hemochromatosis (HH) is an inherited disorder wherein the body accumulates excess iron. This test establishes HH diagnosis in individuals with abnormal iron study results and identifies at-risk family members.


Description: Iron and Total Iron Binding Capacity is a blood panel used to determine iron levels in your blood, your body’s ability to transport iron, and help diagnose iron-deficiency and iron overload.

Also Known As: Serum Iron Test, Serum Fe Test, Iron Binding Capacity Test, IBC Test, Serum Iron-Binding Capacity Siderophilin Test, TIBC Test, UIBC Test, Iron Lab Test, TIBC Blood test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is a Iron and Total Iron Binding Capacity test ordered?

When a doctor feels that a person's symptoms are caused by iron overload or poisoning, an iron and TIBC test, as well ferritin assays, may be done. These may include the following:

  • Joint discomfort
  • Weakness and exhaustion
  • Energy deficiency
  • Pain in the abdomen
  • Suffering from a lack of sexual desire
  • Problems with the heart

When a child is suspected of ingesting too many iron tablets, a serum iron test is required to detect the poisoning and to determine its severity.

A doctor may also request iron and TIBC when the results of a standard CBC test are abnormal, such as a low hematocrit or hemoglobin, or when a doctor suspects iron deficiency based on signs and symptoms such as:

  • Chronic tiredness/fatigue
  • Dizziness
  • Weakness
  • Headaches
  • Skin that is pale

What does a Iron and Total Iron Binding Capacity blood test check for?

Iron is a necessary ingredient for survival. It is a vital component of hemoglobin, the protein in red blood cells that binds and releases oxygen in the lungs and throughout the body. It is required in small amounts to help form normal red blood cells and is a critical part of hemoglobin, the protein in RBCs that binds oxygen in the lungs and releases it as blood circulates to other parts of the body.

By detecting numerous components in the blood, iron tests are ordered to determine the quantity of iron in the body. These tests are frequently ordered at the same time, and the data are analyzed together to determine the diagnosis and/or monitor iron deficiency or overload.

The level of iron in the liquid component of the blood is measured by serum iron.

Total iron-binding capacity is a measurement of all the proteins in the blood that may bind to iron, including transferrin.

The percentage of transferrin that has not yet been saturated is measured by the UIBC. Transferrin levels are also reflected in the UIBC.

Low iron levels can cause anemia, resulting in a decrease in the production of microcytic and hypochromic RBCs. Large amounts of iron, on the other hand, might be hazardous to the body. When too much iron is absorbed over time, iron compounds build up in tissues, particularly the liver, heart, and pancreas.

Normally, iron is absorbed from food and distributed throughout the body by binding to transferrin, a liver protein. About 70% of the iron delivered is used in the synthesis of hemoglobin in red blood cells. The rest is stored as ferritin or hemosiderin in the tissues, with minor amounts being utilized to make other proteins like myoglobin and enzymes.

Insufficient intake, limited absorption, or increased dietary requirements, as observed during pregnancy or with acute or chronic blood loss, are all signs of iron deficiency. Excessive intake of iron pills can cause acute iron overload, especially in children. Excessive iron intake, genetic hemochromatosis, multiple blood transfusions, and a few other disorders can cause chronic iron overload.

Lab tests often ordered with a Iron and Total Iron Binding Capacity test:

  • Complete Blood Count
  • Ferritin
  • Transferrin
  • Zinc Protoporphyrin

Conditions where a Iron and Total Iron Binding Capacity test is recommended:

  • Anemia
  • Hemochromatosis

How does my health care provider use a Iron and Total Iron Binding Capacity test?

The amount of circulating iron in the blood, the capacity of the blood to carry iron, and the amount of stored iron in tissues can all be determined by ordering one or more tests. Testing can also assist distinguish between different types of anemia

The level of iron in the blood is measured by serum iron.

Total iron-binding capacity is a measurement of all the proteins in the blood that may bind to iron, including transferrin. The TIBC test is a useful indirect assessment of transferrin because it is the predominant iron-binding protein. In response to the requirement for iron, the body generates transferrin. Transferrin levels rise when iron levels are low, and vice versa. About one-third of the binding sites on transferrin are used to transport iron in healthy humans.

The reserve capacity of transferrin, or the part of transferrin that has not yet been saturated, is measured by UIBC. Transferrin levels are also reflected in the UIBC.

The iron test result, as well as TIBC or UIBC, are used to calculate transferrin saturation. It represents the proportion of transferrin that is iron-saturated.

Ferritin is the major storage protein for iron inside cells, and serum ferritin represents the quantity of stored iron in the body.

These tests are frequently ordered together, and the results can assist the doctor figure out what's causing the iron deficit or overload.

Additional information about iron

A balance between the quantity of iron received into the body and the amount of iron lost is required to maintain normal iron levels. Because a tiny quantity of iron is lost each day, a deficiency will develop if too little iron is consumed. In healthy persons, there is usually enough iron to prevent iron deficiency and/or iron deficiency anemia, unless they eat a bad diet. There is a greater need for iron in some circumstances. People who have persistent gut bleeding or women who have heavy menstrual periods lose more iron than they should and can develop iron deficiency. Females who are pregnant or breastfeeding lose iron to their babies and may develop an iron shortage if they do not consume enough supplemental iron. Children may require additional iron, especially during periods of rapid growth, and may suffer iron shortage.

Low serum iron can also arise when the body is unable to adequately utilize iron. The body cannot correctly utilize iron to generate additional red cells in many chronic disorders, particularly malignancies, autoimmune diseases, and chronic infections. As a result, transferrin production slows, serum iron levels drop because little iron is absorbed from the stomach, and ferritin levels rise. Malabsorption illnesses like sprue syndrome can cause iron deficiency.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


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Description: Iron is a blood test used to determine iron levels in your blood, your body’s ability to transport iron, and help diagnose iron-deficiency and iron overload.

Also Known As: Serum Iron Test, Serum Fe Test, Iron Total Test, IBC Test, Iron Lab Test, Iron Blood test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: The patient should be fasting 9-12 hours prior to collection and collection should be done in the morning.

When is an Iron Total test ordered?

When a doctor feels that a person's symptoms are caused by iron overload or poisoning, an iron test, as well ferritin assays, may be done. These may include the following:

  • Joint discomfort
  • Weakness and exhaustion
  • Energy deficiency
  • Pain in the abdomen
  • Suffering from a lack of sexual desire
  • Problems with the heart

When a child is suspected of ingesting too many iron tablets, a serum iron test is required to detect the poisoning and to determine its severity.

A doctor may also request iron testing when the results of a standard CBC test are abnormal, such as a low hematocrit or hemoglobin, or when a doctor suspects iron deficiency based on signs and symptoms such as:

  • Chronic tiredness/fatigue
  • Dizziness
  • Weakness
  • Headaches
  • Skin that is pale

What does an Iron Total blood test check for?

Iron is a necessary ingredient for survival and is a critical component of hemoglobin, the protein in red blood cells that binds oxygen in the lungs and releases it to other parts of the body. It is required in small amounts to help form normal red blood cells and is a critical part of hemoglobin, the protein in RBCs that binds oxygen in the lungs and releases it as blood circulates to other parts of the body.

By detecting numerous components in the blood, iron tests are ordered to determine the quantity of iron in the body. These tests are frequently ordered at the same time, and the data are analyzed together to determine the diagnosis and/or monitor iron deficiency or overload.

The level of iron in the liquid component of the blood is measured by serum iron.

Low iron levels can cause anemia, resulting in a decrease in the production of microcytic and hypochromic RBCs. Large amounts of iron, on the other hand, might be hazardous to the body. When too much iron is absorbed over time, iron compounds build up in tissues, particularly the liver, heart, and pancreas.

Normally, iron is absorbed from food and distributed throughout the body by binding to transferrin, a liver protein. About 70% of the iron delivered is used in the synthesis of hemoglobin in red blood cells. The rest is stored as ferritin or hemosiderin in the tissues, with minor amounts being utilized to make other proteins like myoglobin and enzymes.

Insufficient intake, limited absorption, or increased dietary requirements, as observed during pregnancy or with acute or chronic blood loss, are all signs of iron deficiency. Excessive intake of iron pills can cause acute iron overload, especially in children. Excessive iron intake, genetic hemochromatosis, multiple blood transfusions, and a few other disorders can cause chronic iron overload.

Lab tests often ordered with an Iron Total test:

  • Complete Blood Count
  • Ferritin
  • Transferrin
  • Zinc Protoporphyrin

Conditions where an Iron Total test is recommended:

  • Anemia
  • Hemochromatosis

How does my health care provider use an Iron Total test?

The amount of circulating iron in the blood, the capacity of the blood to carry iron, and the amount of stored iron in tissues can all be determined by ordering one or more tests. Testing can also assist distinguish between different types of anemia

The level of iron in the blood is measured by serum iron.

Total iron-binding capacity is a measurement of all the proteins in the blood that may bind to iron, including transferrin. The TIBC test is a useful indirect assessment of transferrin because it is the predominant iron-binding protein. In response to the requirement for iron, the body generates transferrin. Transferrin levels rise when iron levels are low, and vice versa. About one-third of the binding sites on transferrin are used to transport iron in healthy humans.

The reserve capacity of transferrin, or the part of transferrin that has not yet been saturated, is measured by UIBC. Transferrin levels are also reflected in the UIBC.

The iron test result, as well as TIBC or UIBC, are used to calculate transferrin saturation. It represents the proportion of transferrin that is iron-saturated.

Ferritin is the major storage protein for iron inside cells, and serum ferritin represents the quantity of stored iron in the body.

These tests are frequently ordered together, and the results can assist the doctor figure out what's causing the iron deficit or overload.

Additional information about iron

A balance between the quantity of iron received into the body and the amount of iron lost is required to maintain normal iron levels. Because a tiny quantity of iron is lost each day, a deficiency will develop if too little iron is consumed. In healthy persons, there is usually enough iron to prevent iron deficiency and/or iron deficiency anemia, unless they eat a bad diet. There is a greater need for iron in some circumstances. People who have persistent gut bleeding or women who have heavy menstrual periods lose more iron than they should and can develop iron deficiency. Females who are pregnant or breastfeeding lose iron to their babies and may develop an iron shortage if they do not consume enough supplemental iron. Children may require additional iron, especially during periods of rapid growth, and may suffer iron shortage.

Low serum iron can also arise when the body is unable to adequately utilize iron. The body cannot correctly utilize iron to generate additional red cells in many chronic disorders, particularly malignancies, autoimmune diseases, and chronic infections. As a result, transferrin production slows, serum iron levels drop because little iron is absorbed from the stomach, and ferritin levels rise. Malabsorption illnesses like sprue syndrome can cause iron deficiency.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


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Description: A Lipase test is used to measure the amount of lipase in the blood’s serum. Lipase is an enzyme that is produced by the pancreas. This test can be used to help diagnose acute pancreatic diseases and monitor chronic ones. It can also be used to measure the progress of pancreatic disease treatment.

Also Known As: LPS Test

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: No preparation required

When is a Lipase test ordered?

When a person shows signs of acute pancreatitis or another pancreatic condition, a lipase test may be recommended.

It may also be ordered at regular intervals when a doctor wishes to monitor someone with a pancreatic issue to see how well medication is working and whether lipase levels are rising or falling over time.

What does a Lipase blood test check for?

Lipase is one of numerous pancreatic enzymes that aid in the digestion of dietary lipids. This test determines how much lipase is present in the blood.

Lipase travels from the pancreas to the first portion of the small intestine, where it aids in the breakdown of dietary lipids into fatty acids. Lipase is produced mostly by the pancreas, but it is also produced by cells in the tongue, stomach, and liver, which are all involved in digestion and nutritional absorption.

Lipase is normally found in modest amounts in the blood. When pancreatic cells are harmed, as in pancreatitis, or the pancreatic duct is obstructed by a gallstone or, in rare situations, a pancreatic tumor, more lipase enters the bloodstream, resulting in greater blood concentrations.

Lab tests often ordered with a Lipase test:

  • Amylase
  • Trypsin
  • Trypsinogen

Conditions where a Lipase test is recommended:

  • Cystic Fibrosis
  • Diabetes
  • Pancreatic Diseases
  • Pancreatitis
  • Pancreatic Cancer
  • Celiac Disease
  • Crohn Disease

How does my health care provider use a Lipase test?

To diagnose and monitor acute pancreatitis, a blood test for lipase is frequently performed in conjunction with an amylase test. It can also be used to diagnose and monitor chronic pancreatitis and other pancreatic illnesses, but it isn't as good a test for these conditions because lipase levels stay raised for extended periods of time and don't always reflect clinical progress.

Lipase testing is sometimes used to diagnose and monitor cystic fibrosis, celiac disease, and Crohn's disease.

What do my Lipase test results mean?

A high lipase level in the blood could suggest the presence of a pancreas problem.

Lipase levels are usually quite high in acute pancreatitis, generally 5 to 10 times higher than the maximum reference point. Lipase levels normally rise within 4 to 8 hours of an acute pancreatitis incident and stay high for 7 to 14 days. The severity of an acute pancreatic attack cannot be determined by lipase levels.

Pancreatic duct obstruction, pancreatic cancer, and other pancreatic illnesses, as well as gallbladder inflammation and renal dysfunction, can raise concentrations.

Lipase levels in the blood may suggest persistent damage to the pancreas' lipase-producing cells. This can happen in pancreas-related chronic disorders like cystic fibrosis.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


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Description: Transferrin is a blood test used to measure the amount of transferrin in the blood's serum. It is used to evaluate if there is a proper amount of iron being transport throughout the body. A test called Total Iron Binding Capacity, or TIBC, will tell you how much of that transferrin is capable of transporting, or binding to the iron in the blood.

Collection Method: Blood Draw

Specimen Type: Serum

Test Preparation: Fasting for at least 12 hours is required

When is a Transferrin test ordered?

When a doctor wants to analyze or monitor a person's nutritional health, a transferrin test may be ordered along with additional tests like prealbumin.

What does a Transferrin blood test check for?

The primary protein in the blood that bonds to iron and transfers it across the body is transferrin. Total iron binding capacity, unsaturated iron binding capacity, and transferrin saturation are all measures of how much transferrin is available to bind to and transport iron.

The transferrin serum test, along with TIBC, UIBC, and transferrin saturation, measures the blood's ability to bind and transport iron, and is an indicator of iron storage.

Lab tests often ordered with a Transferrin test:

  • Iron Total
  • Iron Total and Total Iron Binding Capacity
  • Ferritin
  • Complete Blood Count (CBC)
  • Hemoglobin
  • Hematocrit
  • Reticulocyte Count

Conditions where a Transferrin test is recommended:

  • Iron Deficiency Anemia
  • Hemochromatosis
  • Liver Disease
  • Malnutrition

How does my health care provider use a Transferrin test?

When assessing a person's nutritional state or liver function, a transferrin test is commonly performed. Transferrin will be low in people with liver disease because it is produced in the liver. Transferrin levels fall when there isn't enough protein in the diet, so this test is used to keep track of your diet.

What do my transferrin test results mean?

The findings of transferrin testing are frequently compared to the results of other iron tests.

If you have the following conditions, you may have a low transferrin level:

  • Hemochromatosis
  • Anemia caused by a build-up of iron in the body can cause a variety of symptoms.
  • Malnutrition
  • Inflammation
  • Hepatitis
  • A kidney ailment that causes protein loss in the urine such as nephrotic syndrome

When there is an iron deficit, transferrin saturation decreases, and when there is an overabundance of iron, such as in iron overload or poisoning, it increases.

We advise having your results reviewed by a licensed medical healthcare professional for proper interpretation of your results.


Troponin I is part of a protein complex which regulates the contraction of striated muscle. In acute coronary syndromes (ACS), it can be detected in blood at 4-8 hours following the onset of chest pain, reaches a peak concentration at 12-16 hours, and remains elevated for 5-9 days. Troponin I has been used as a reliable marker in the diagnosis of perioperative myocardial infarction in patients undergoing cardiac surgery.


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Deficiency of vitamin E may cause extensive neuropathy in young children and, in addition, is suspect as a possible cause of motor and sensory neuropathy in older children and in adults. One likely cause of vitamin E deficiency is intestinal malabsorption, resulting from bowel disease, pancreatic disease, or chronic cholestasis. Other causes of malabsorption of vitamin E include celiac disease, cystic fibrosis, and intestinal lymphangiectasia.

Zinc, Copper and Ceruloplasmin Panel contains: Zinc, Copper and Ceruloplasmin 


Organic Acids, Limited, Quantitative, Urine

Clinical Significance

This test is intended for the diagnosis and monitoring of inherited disorders affecting multiple metabolic pathways. 

Organic acidurias are inherited disorders resulting from a deficient enzyme or transport protein. Although most are autosomal recessive disorders, several are X-linked. The more than 60 described organic acidurias affect many metabolic pathways including amino acid metabolism, lipid metabolism, purine and pyrimidine metabolism, the urea cycle, the Krebs cycle and fatty acid oxidation. These disorders are characterized by a wide variety of symptoms such as lethargy, coma, hypotonia, seizures, ataxia, vomiting, failure to thrive, developmental delay, liver disease, neutropenia, thrombocytopenia, osteomalacia and osteoporosis. Severity of presentation is highly variable as is age of onset, and patients may not present with the most characteristic features. Laboratory results commonly indicate metabolic acidosis, increased anion gap, hyperammonemia, hypoglycemia, lactic acidemia, ketosis, or abnormal lipid patterns. Treatment may be based on dietary restrictions and/or supplementation with cofactors (e.g., riboflavin or cobalamin) or conjugating agents (e.g., carnitine or sodium benzoate); however, there is no effective therapy for some of the disorders. 

Elevation of one or more organic acids is diagnostic for an organic aciduria; however, elevations should be interpreted in context with clinical findings and/or additional test results. See additional information for a table of selected organic acidurias and associated organic acid elevations. Since many organic acidurias are episodic, the diagnostic efficacy is maximized when the patient is expressing symptoms at the time of specimen collection. 

The test will be capable of diagnosing over 30 inherited metabolic defects, and will also allow physicians to determine dietary compliance or the effectiveness of dietary/cofactor therapy for their patients. It can also be used, alone or in conjunction with other tests, to confirm the findings of a positive expanded newborn screen.

NOTE: The codes listed in the table are not orderable Test Codes 

Result CodeResult NameLOINC CodeComponent Name

85993994 

CREATININE, RANDOM URINE 

14683-7 

Creatinine 

86019934 

LACTIC ACID 

25112-4 

Lactate/Creatinine 

86019942 

2OH-ISOVALERIC ACID 

29504-8 

2-Hydroxyisovalerate/Creatinine 

86019946 

3OH-2-METHYLBUTYRIC ACID 

Pending assignment 

86019962 

4OH-PHENYLPYRUVIC ACID 

29519-6 

4-Hydroxyphenylpyruvate/Creatinine 

86019964 

SUCCINYLACETONE 

25137-1 

Succinylacetone/Creatinine 

86019967 

METHYLMALONIC ACID 

25116-5 

Methylmalonate/Creatinine 

86019968 

MALONIC ACID 

47696-0 

Malonate/Creatinine 

86019974 

PROPIONYLGLYCINE 

24442-6 

Propionylglycine/Creatinine 

86019976 

2-METHYLBUTYRYLGLYCINE 

24435-0 

2-Methylbutyrylglycine/Creatinine 

86019978 

ISOVALERYLGLYCINE 

24440-0 

Isovalerylglycine/Creatinine 

86019982 

3-METHYLCROTONYLGLYCINE 

24436-8 

3-Methylcrotonylglycine/Creatinine 

86019985 

ETHYLMALONIC ACID 

25099-3 

Ethylmalonate/Creatinine 

86019997 

SUBERYLGLYCINE 

24443-4 

Suberylglycine/Creatinine 

86020008 

3OH-3-METHYLGLUTARIC ACID 

26583-5 

3-Hydroxy,3-Methylglutarate/Creatinine 

86020013 

3OH-GLUTARIC ACID 

29510-5 

3-Hydroxyglutarate/Creatinine 

86020019 

OROTIC ACID 

17869-9 

Orotate/Creatinine 

86020235 

INTERPRETATION 

33477-1 

Organic acids pattern

 



Genetic testing for targeted cancer therapy is all about pinpointing mutations in the DNA and getting a read on what is going on in the body beyond traditional scans. It takes a look at a person's genetic coding to ensure they receive appropriate treatment for what their body needs. This is key when it comes to avoiding using dangerous drugs or are not going to respond well to the patient's tumor.

Cancer tends to grow at an uncontrolled rate due to the presence of abnormal cells. This can happen for many reasons, including the proteins not binding as they are supposed to, which can cause the cell generation to spiral out of control. Having information on the mutations at the cellular level makes it easier to pinpoint where the issues lie, target specific proteins based on a patient's genetic code, and develop a plan that will only target cancerous cells.

A lot of research has gone into understanding the role genes play in cancer. The information has continually been refined to understand cancer and then used to create personalized treatment plans (targeted cancer therapy). The drugs used will be chosen based explicitly on what a patient requires at that moment. Researchers have analyzed the research data to see patterns for what works and what doesn't across thousands of patients.

The findings have made it a lot easier to have a more predictable approach to handling cancer.

Cancer drugs that target particular proteins can then be used for genetically more receptive patients to that type of treatment.

Genetic tests also take the time to spot mutations in the tissue. This allows specialists to see which therapy will have the best results.

Researchers continue to analyze a person's genes to make sure they are developing suitable treatment options and can continue to fine-tune their approach to handling cancer heading into the future. This is what targeted cancer therapy is all about.

FAQs

1. Why is Testing Essential?

It's essential to focus on the underlying details of any type of cancer treatment such as:

  • Chemotherapy
  • Radiation therapy
  • Surgery
  • Any combination of the above therapies

These can only be found using genetic tests. The goal is to use the right drugs for chemotherapy to target specific parts of the body that will get rid of the cancerous cells. With radiation therapy, the goal is to kill the cells doing the damage and make sure they don't grow. Both therapies work well and are essential in treating cancer. The appropriate adjusting of these treatments is what customizes it for the patient's needs.

The premise behind targeted therapy is to fight cancer using a different cancer treatment. This is a unique way to use a drug that will have a more pronounced effect on the cancerous tissue. The goal is to have similar results while cutting down on the side effects of regular therapy. This is due to understanding a person's genetic code to fine-tune what is happening with the cancerous cells, which is the best way to differentiate between the cells, only to pinpoint the bad ones. Targeted therapy is all about going through a set of steps to "target" the bad cancer cells. Taking the time to target those cells makes it easier for the patient to go through the therapy while knowing the results will be stronger. 

The drugs that come along with this type of therapy can cost a lot, and they will only work after there has been genetic testing done on the patient to see what needs to happen for maximum results. This information will only come along with the tests that will be run at the start of the therapy.

There are several types of cancer drugs that are sold on the open market, including:

  • Drugs that target the receptors of the cell to block growth signaling
  • Drugs that cross the cell membrane and stop growth at the receptor's active site

2. How Does Genetic Testing Help with Targeted Cancer Therapy?

Genetic tests are essential for pinpointing what type of cancer a patient is dealing with and how to treat it using the right drugs. Without this information, it is tough for a doctor to develop the right set of cancer drugs to create potent results.

Genetic coding is essential for understanding what the body is made of and how it responds to specific proteins. There are also genetic alternations to consider, which are also known as mutations. These happen across the world in all types of people. These mutations can get passed down over time, and it is important to be aware of them before starting a targeted treatment plan. The wrong cancer treatment can lead to unwanted side effects when it comes to mutations. They can even trigger these mutations in the human body. 

With so many cancers to think about, it's important to remain on top of these mutations, including knowing which protein is bonded to the tumor present in the body. Knowing this information goes a long way in coming up with a successful treatment plan for the patient. Specific mutations grow rapidly, and it's crucial to take action right away with targeted therapy. It is these changes to the protein that can make it difficult for patients to stay healthy.

Genetic tests do a good job spotting specific tumors and understanding them at a cellular level. This is a great starting point for the targeted therapy to be carried out as intended.  

3. When Do the Tests Get Ordered?

These tests tend to start right away when it is decided targeted therapy is the way forward to fight cancer. It is part of the screening test that will be done to see what is happening inside the patient's body and how the cancer is growing. 

The A specialist will take the opportunity to acquire a sample of the tumor's tissue and then run it through genetic testing. There are times when the tests will be rerun if the tumor continues to grow and the therapy has to be adjusted again.

4. What Do These Tests Look Like?

The general idea behind a test such as this is to look at the genes in the human body for cancer treatments. The focus is to pinpoint those mutations causing cancer to become a reality in the patient's life.

Here are a few examples of what the test is going to take a look at:

  • Chronic myelogenous leukemia - test for ABLI (non-responsive to imatinib with mutation)
  • Breast cancer - test for Her2/neu (responds Well to trastuzumab)
  • Chronic myelogenous leukemia (CML) - test for BCL-ABL - (can be measured while treated with targeted drug)
  • A gastrointestinal stromal tumor (GIST) - test for KIT (assesses the mutation and responds well to imatinib therapy with an increased dose)
  • Colon cancer - test for KRAS (will be resistant to tyrosine kinase inhibitor)
  • Melanoma - test for BRAF (responds well to vemurafenib to treat metastatic melanoma)
  • A gastrointestinal stromal tumor (GIST) - test for PDGFRA (will not respond well to imatinib with nutation present)
  • Non-small lung cancer (NSCLC) - test for EML4-ALK (if ALK is spotted, it can respond well to ALK kinase inhibitors, including crizotinib)
  • Myeloproliferative neoplasms (MPNs) - test for JAK2 (if a mutation is present, it can be treated using ruxolitinib)
  • Non-small lung cancer (NSCLC) - test for ROS1 (if ROS1 is seen, use ALK kinase inhibitors including crizotinib)
  • Non-small lung cancer (NSCLC) - test for EGFR (ideal for tyrosine kinase inhibitors including gefitinib or erlotinib)
  • Non-small lung cancer (NSCLC) - test for KRAS (can be resistant to tyrosine kinase inhibitors and vinorelbine therapy)
  • Non-small lung cancer (NSCLC) - test for PDL1 (will likely respond to immunotherapy)

When it comes to using cancer drugs, specialists need to look at the patient's genetic coding and then compare it to the list of treatment options.

In comparison, regular therapy would go for a broad-spectrum approach, which can be riskier as there are situations where the body is not going to respond well to specific drugs, as seen in the list above. By having targeted cancer therapy, it's possible to get past these hurdles with a quick look at a person's genetic coding. The tests are FDA-approved and safe for those who want to ensure they are safe during the treatment process.   

The goal is to make things simple for the doctor, and that is possible with these tests.

Cancers are noted for being linked to genetics. It is important to have a good read on them before starting any type of cancer treatment, including potential characteristics associated with mutations in a person's body. A good example of this would be GIST, as it will not be the same in children as it is in adults.

In the testing phase, most of the testing is going to be done with common mutations. It is important to rule out the primary mutations to get a better read on how the treatment will be handled. A specialist will analyze the information and test the sample to ensure the right treatment plan is put together.

Genetic tests can be run on specific gene mutations based on the type of cancer a patient is dealing with. This will be at the discretion of the specialist and what they are looking for before designing the treatment plan.

Examples of this can include KIT and NRAS (Melanoma) or PIK3CA and NRAS (Colon Cancer).