All Genetic Disorder Tests

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.


Name Matches
Most Popular
The major sources of amylase are the pancreas and the salivary glands. The most common cause of elevation of serum amylase is inflammation of the pancreas (pancreatitis). In acute pancreatitis, serum amylase begins to rise within 6-24 hours, remains elevated for a few days and returns to normal in 3-7 days. Other causes of elevated serum amylase are inflammation of salivary glands (mumps), biliary tract disease and bowel obstruction. Elevated serum amylase can also be seen with drugs (e.g., morphine) which constrict the pancreatic duct sphincter preventing excretion of amylase into the intestine.

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

Most Popular
Decreased levels of ceruloplasmin are found in Wilson''s Disease, fulminant liver failure, intestinal malabsorption, renal failure resulting in proteinuria, chronic active hepatitis and malnutrition. Elevated levels are found in primary biliary cirrhosis, pregnancy (first trimester), oral contraceptive use and in acute inflammatory conditions since ceruloplasmin is an acute phase reactant


A Complete Blood Count (CBC) Panel is used as a screening test for various disease states including anemia, leukemia, and inflammatory processes.

A CBC blood test includes the following biomarkers: WBC, RBC, Hemoglobin, Hematocrit, MCV, MCH, MCHC, RDW, Platelet count, Neutrophils, Lymphs, Monocytes, Eos, Basos, Neutrophils (Absolute), Lymphs (Absolute), Monocytes(Absolute), Eos (Absolute), Basos (Absolute), Immature Granulocytes, Immature Grans (Abs)

NOTE: Only measurable biomarkers will be reported.

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

Comprehensive Metabolic Panel


Most Popular
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.

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.

Most Popular

Useful in the diagnosis of hypochromic, microcytic anemias. Decreased in iron deficiency anemia and increased in iron overload.


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


A Hemoglobin (Hb) A1c Blood Test evaluates the average amount of glucose in the blood. The A1c test will help determine whether you are at a higher risk of developing diabetes; to help diagnose diabetes and prediabetes; to monitor diabetes and to aid in treatment decisions.

To assist with control of blood glucose levels, the American Diabetes Association (ADA) has recommended glycated hemoglobin testing (HbA1c) twice a year for patients with stable glycemia, and quarterly for patients with poor glucose control. Interpretative ranges are based on ADA guidelines.


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.


Serum iron quantification is useful in confirming the diagnosis of iron-deficiency anemia or hemochromatosis. The measurement of total iron binding in the same specimen may facilitate the clinician''s ability to distinguish between low serum iron levels caused by iron deficiency from those related to inflammatory neoplastic disorders. The assay for iron measures the amount of iron which is bound to transferrin. The total iron binding capacity (TIBC) measures the amount of iron that would appear in blood if all the transferrin were saturated with iron. It is an indirect measurement of transferri

Most Popular

Most Popular
Confirmatory evidence for diagnosis of pancreatitis

Most Popular
Transferrin is a direct measure of the iron binding capacity. Transferrin is thus useful in assessing iron balance. Iron deficiency and overload are often evaluated with complementary laboratory tests.

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.


Most Popular
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).