Ulta Lab Tests

All Genetic Disorder Tests

“All Genetic Disorder Tests” brings together the major options for evaluating inherited conditions. Use this page to choose among carrier screening, single-gene tests, multigene panels, and supportive biochemical labs that help confirm or monitor specific disorders. Genetic testing can clarify personal risk, support a diagnosis, or inform family planning.

A proactive plan starts with your question—Am I a carrier? Why do I have these symptoms? What does my family history mean?—then matches the right test type. Results should be reviewed with a qualified clinician, and many people benefit from genetic counseling to understand next steps. Genetic tests inform care but do not replace a medical exam, imaging, or guideline screenings.

Signs, Symptoms & Related Situations

  • Family & life-stage

    • Known familial variant or strong family history of an inherited condition

    • Preconception/prenatal planning; positive newborn screen needing confirmation

  • Childhood clues

    • Developmental delay, recurrent infections, unexplained failure to thrive, metabolic crises

  • Adult presentations

    • Unexplained anemia or clotting issues; early-onset liver, neurologic, cardiac, or renal disease

    • Features of connective-tissue disorders (tall stature, lens dislocation, aortic dilation)

    • Recurrent hemochromatosis-like findings (high ferritin with high transferrin saturation)

  • When to seek urgent care

    • Acute chest pain, severe shortness of breath, confusion, seizures, or other rapidly worsening symptoms

Symptoms and family history always require clinician evaluation.

Why These Tests Matter

What genetic testing can do

  • Identify risk (carrier status; predisposition) and support diagnosis with clinical context

  • Guide cascade testing for family members and inform reproductive options

  • Prioritize monitoring and preventive care for specific syndromes

What genetic testing cannot do

  • Guarantee who will or won’t develop a condition (penetrance and expression vary)

  • Replace clinical judgment, imaging, or disease-specific procedures (e.g., sweat testing for CF)

  • Convert a variant of uncertain significance (VUS) into a diagnosis without additional evidence

What These Tests Measure (at a glance)

  • Carrier Screening (standard or expanded): checks common pathogenic variants across many genes to inform family planning. Caveat: a negative result lowers—doesn’t eliminate—residual risk.

  • Single-Gene Tests: targeted analysis when a specific disorder is suspected or a family variant is known (e.g., CFTR for cystic fibrosis, HFE for hereditary hemochromatosis, ATP7B for Wilson’s disease, F5/F2 for inherited thrombophilia).

  • Multigene Panels (phenotype-focused): evaluate groups of genes linked to a presentation (e.g., hemoglobinopathies, cardiomyopathy/arrhythmia, connective-tissue disorders). Caveat: larger panels raise the chance of VUS findings.

  • Copy-Number/Deletion–Duplication Analysis: detects larger gene changes missed by sequencing in select conditions.

  • Supportive Biochemical Tests: condition-specific labs used with genetics (e.g., sweat chloride for CF, transferrin saturation/ferritin for iron overload, 24-hr urine copper/ceruloplasmin for Wilson’s, hemoglobin electrophoresis for sickle cell/thalassemia).

Test Type • When to Use • Key Caveat

Test type Best use case Key caveat
Carrier screening (standard/expanded) Preconception, prenatal, or family history Negative ≠ zero risk; residual risk remains
Single-gene test Known family variant or classic features of one disorder Misses conditions outside the tested gene
Multigene panel Overlapping symptoms; unclear single-gene cause Higher chance of VUS; needs careful counseling
Deletion/duplication (CNV) Suspected large gene changes Often added when sequencing is negative
Supportive biochemical lab Confirms physiology (e.g., sweat chloride, iron studies) Not a substitute for genetics; interpret together

How the Testing Process Works

  1. Define your question: carrier risk, diagnostic work-up, or family follow-up.

  2. Pick the test type: targeted single gene, multigene panel, or carrier screen; add confirmatory biochemical testswhen applicable.

  3. Provide a sample: most tests use blood or saliva; some require 24-hour urine (e.g., copper) or clinic-based procedures (e.g., sweat test).

  4. Get results securely: most reports post in days to a few weeks, depending on complexity.

  5. Review & plan: discuss findings with your clinician; consider genetic counseling, cascade testing for relatives, and condition-specific monitoring.

Interpreting Results (General Guidance)

  • Pathogenic/Likely Pathogenic: supports diagnosis or carrier status when consistent with the clinical picture.

  • Benign/Likely Benign: not associated with disease; no action based on this variant.

  • Variant of Uncertain Significance (VUS): do not use alone to diagnose; may be reclassified later as science advances.

  • Inheritance patterns:

    • Autosomal recessive: two variants (one from each parent) are typically needed for disease; carriers have one.

    • Autosomal dominant: one variant can be enough; penetrance varies.

    • X-linked: effects differ by sex.
      Always interpret results with a qualified healthcare professional; some findings warrant specialist referral.

Choosing Panels vs. Individual Tests

  • Known family variant: order the specific variant or single-gene analysis.

  • Classic phenotype: start with the most likely gene (e.g., CFTR, HFE, ATP7B, F5/F2) plus supportive labs.

  • Overlapping features: choose a phenotype-based multigene panel (e.g., hemoglobinopathy, cardiomyopathy, connective tissue).

  • Preconception/prenatal: carrier screening (standard or expanded) with partner testing if positive.

  • After a negative targeted test with strong suspicion: add deletion/duplication or broaden to a panel.

FAQs

Do I need a doctor’s referral?
Ordering is direct through Ulta Lab Tests in many cases, but results should be reviewed with your clinician; some tests may require clinician oversight.

What sample is used?
Usually blood or saliva. Some supportive tests use urine (e.g., copper) or are clinic-based (e.g., sweat chloride).

How long do results take?
From a few days (simple assays) to a few weeks (multigene sequencing). Your order page shows typical timing.

What is a VUS?
A Variant of Uncertain Significance isn’t clearly harmful or benign. It shouldn’t guide treatment until clarified.

Does a negative result rule out disease?
Not always. Panels don’t detect every possible variant, and some conditions have non-genetic causes.

Should my relatives be tested?
Often yes if a pathogenic variant is found. This is called cascade testing and is planned with your clinician.

Will this affect my insurance or employment?
In the U.S., federal laws limit use of genetic information for health insurance and employment, but other insurance types may differ. Discuss questions with your clinician or counselor.

Related Categories & Key Tests

  • Genetic Disorder Tests Hub

  • Cystic Fibrosis Tests • Hemochromatosis Tests • Wilson’s Disease Tests • Hemoglobin Abnormalities • Sickle Cell Anemia • Thalassemia • Carrier Screening

  • Key Tests: CFTR Mutation Panel • CFTR Sequencing/Del-Dup • HFE Genetic Test (C282Y/H63D) • ATP7B Genetic Test • Hemoglobinopathy Evaluation • Alpha/Beta Thalassemia DNA Analysis • Factor V Leiden (F5) • Prothrombin G20210A (F2) • Sweat Chloride (clinic) • Iron Studies (TS%, Ferritin) • Ceruloplasmin & 24-hr Urine Copper

References 

  • American College of Medical Genetics and Genomics (ACMG) — Standards for interpretation and reporting of variants.
  • American College of Obstetricians and Gynecologists (ACOG) — Carrier screening guidance.
  • Cystic Fibrosis Foundation — Diagnostic criteria and sweat testing standards.
  • American Association for the Study of Liver Diseases (AASLD) — Guidelines for hereditary hemochromatosis and Wilson’s disease.
  • GeneReviews — Expert summaries of inherited conditions.
  • National Society of Genetic Counselors — Practice resources for counseling and cascade testing.
  • CDC Newborn Screening Program — Condition lists and follow-up.
  • NCCN — Hereditary cancer risk assessment (for syndrome-specific panels).

Available Tests & Panels

Your All Genetic Disorder Tests menu is pre-populated in the Ulta Lab Tests system. Use filters to select carrier screening, single-gene tests, or multigene panels, and add supportive biochemical labs where appropriate. After ordering, review results with your clinician—and consider genetic counseling—to plan confirmatory testing, family testing, and long-term monitoring.

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The Amylase Test measures amylase enzyme levels in blood to evaluate pancreatic and digestive health. Elevated amylase may indicate pancreatitis, gallbladder disease, intestinal blockage, or salivary gland disorders, while low levels may suggest chronic pancreatitis or liver damage. Doctors order this test to investigate abdominal pain, nausea, or fever. Results provide vital insight into pancreatic function, digestive disorders, and overall metabolic health.

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Also Known As: Amy Test
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The Ceruloplasmin Test measures levels of ceruloplasmin, a copper-carrying protein made in the liver, to evaluate copper metabolism and related disorders. Low levels may indicate Wilson’s disease, Menkes disease, or severe liver disease, while high levels may suggest inflammation or pregnancy. Doctors order this test for patients with liver problems, neurological symptoms, or abnormal copper levels. Results help diagnose metabolic disorders and guide treatment.

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Also Known As: Copper Oxide Test, Wilson’s Disease Test
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The Complete Blood Count with Differential and Platelets Test is a comprehensive blood test that checks red blood cells, white blood cells, hemoglobin, hematocrit, and platelets. The differential analyzes types of white blood cells to detect infections, anemia, clotting abnormalities, immune conditions, and certain cancers. This essential test is often ordered for routine health exams, diagnosis, and monitoring treatment progress.

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Also Known As: CBC Test, CBC with Differential and Platelets Test, CBC w/Diff and Platelets Test, Full Blood Count Test, Complete Blood Count Test
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The Comprehensive Metabolic Panel (CMP) Test measures 21 markers to assess metabolic health, liver and kidney function, and electrolyte balance. It includes glucose, calcium, sodium, potassium, chloride, CO2, albumin, globulin, A/G ratio, total protein, bilirubin, ALP, AST, ALT, BUN, creatinine, BUN/creatinine ratio, and eGFR. The CMP helps detect diabetes, liver or kidney disease, and supports routine screening and chronic condition monitoring.

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Also Known As: CMP Test, Chemistry Panel Test, Chem Test, Chem 21 Test, Chem 14 Test 
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The Copper Micronutrient Plasma Test measures copper levels in the blood to evaluate nutritional status and detect deficiencies or excess. Copper is essential for red blood cell formation, connective tissue health, energy production, and nervous and immune system function. This test helps identify imbalances from poor diet, malabsorption, or toxicity, supporting diagnosis and management of overall health.

Patient must be 18 years of age or older.
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The Copper Test measures copper levels in blood to evaluate nutritional status, liver function, and metabolic health. Abnormal levels may indicate Wilson’s disease, Menkes disease, liver disorders, or malnutrition. Both deficiency and excess copper can affect nervous system, immune function, and energy metabolism. Doctors use this test to investigate unexplained symptoms, monitor treatment, or assess copper-related disorders, providing key insight into overall health.

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Also Known As: Cu Test, Copper Serum Test, Copper Plasma Test
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The Copper 24 Hour Urine Test evaluates copper elimination in urine across a full day, helping identify metabolic or liver-related disorders. Abnormal levels may signal Wilson’s disease, copper toxicity, or deficiency. By capturing copper output over 24 hours, the test provides insight into copper balance, aiding in the assessment of hepatic function, nutritional status, and the effects of excessive copper exposure.

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The Copper Blood Test measures copper levels in the blood to evaluate nutritional status, metabolic function, and potential toxicity. Abnormal levels may be linked to Wilson’s disease, Menkes disease, liver dysfunction, or excessive exposure. This test helps assess unexplained fatigue, neurological symptoms, or metabolic imbalance, supporting evaluation of trace element health and copper-related disorders.

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Blood Draw
Also Known As: Cu Blood Test, Cu Test, Blood Copper Test, Hepatic Copper Test, Copper Free Test
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The Copper RBC Test measures copper levels inside red blood cells, reflecting long-term copper status and cellular availability. Unlike serum copper, which can fluctuate, RBC copper gives a more accurate picture of tissue stores. Abnormal results may indicate copper deficiency, malnutrition, malabsorption, Wilson’s disease, or excess copper exposure. Doctors use this test to evaluate metabolic health, monitor treatment, and support diagnosis of mineral imbalances.

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Also Known As: Cu RBC Test, Cu Test, Blood Copper Test, RBC Copper Test, Hepatic Copper Test, Copper Blood Test
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The Ferritin Test measures ferritin, a protein that stores iron in the body, to evaluate iron levels and detect deficiency or overload. It helps diagnose anemia, iron deficiency, hemochromatosis, and chronic disease-related inflammation. Doctors often order the ferritin test to investigate fatigue, weakness, or unexplained symptoms. It is also used to monitor iron supplementation, treatment effectiveness, and overall iron metabolism health.

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Also Known As: Iron Storage Test
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The Ferritin, Iron and Total Iron Binding Capacity Panel evaluates ferritin, total iron, TIBC, and % iron saturation to understand iron balance and storage. It helps identify anemia, iron deficiency, or overload that may affect energy, red blood cell production, and overall wellness.

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The Hemoglobin A1c (HbA1c) Test measures average blood glucose over 2–3 months by detecting sugar attached to hemoglobin in red blood cells. It is used to diagnose diabetes, identify prediabetes, and monitor long-term blood sugar control. Doctors rely on the HbA1c test to evaluate treatment effectiveness, guide adjustments, and assess risk for complications, making it essential for diabetes care and metabolic health screening.

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Also Known As: A1c Test, HbA1c Test, Glycated Hemoglobin Test
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The Hereditary Hemochromatosis DNA Mutation Analysis evaluates mutations in the HFE gene that contribute to hereditary iron overload. Abnormal results may explain unexplained fatigue, liver dysfunction, joint issues, or heart disease. This test supports assessment of genetic predisposition, metabolic balance, and systemic conditions caused by excess iron accumulation and hemochromatosis-related complications.

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The Iron Total and Total Iron Binding Capacity (TIBC) Test measures iron levels in blood along with the blood’s ability to transport iron. It helps diagnose iron deficiency anemia, iron overload (hemochromatosis), and monitor nutritional or chronic health conditions. Low iron or high TIBC may indicate anemia, while high iron or low TIBC can suggest overload. Doctors use this test to evaluate fatigue, weakness, or other symptoms linked to iron and metabolic health.

Blood
Blood Draw
Also Known As: Serum Iron Test, Total Iron Binding Capacity Test, TIBC Test, UIBC Test
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The Iron Micronutrient Test measures blood iron levels to evaluate nutritional status and detect deficiencies or excess. Iron is essential for hemoglobin production, oxygen transport, energy metabolism, and immune function. This test helps identify anemia, iron overload, absorption issues, or dietary imbalances, supporting diagnosis and management of overall health and vital body functions.

Patient must be 18 years of age or older.
Blood
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Also Known As: Serum Iron Test, Serum Fe Test
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The Iron Total Test measures iron levels in blood to evaluate nutritional status, red blood cell production, and overall metabolic health. Abnormal levels may indicate iron deficiency anemia, chronic blood loss, or poor absorption, while high levels may suggest hemochromatosis, liver disease, or iron overload. Doctors use this test to investigate fatigue, weakness, or pallor and to monitor treatment. Results provide key insight into anemia and iron balance.

Blood
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Also Known As: Serum Iron Test, Serum Fe Test
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The Mineral Micronutrients Test Panel measures minerals: Calcium, Chromium, Copper, Iron, Magnesium RBC, Manganese, Molybdenum, Selenium, and Zinc to assess nutritional balance and overall health. These minerals are essential for bone strength, metabolism, energy production, antioxidant defense, and immune function. The panel helps detect deficiencies, excesses, or absorption issues, guiding health management.

Patient must be 18 years of age or older.
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The Lipase Test measures levels of lipase, an enzyme made by the pancreas that helps digest fats. Elevated lipase may indicate acute or chronic pancreatitis, pancreatic cancer, gallbladder disease, kidney failure, or bowel obstruction. Doctors order this test to investigate severe abdominal pain, nausea, or vomiting and to monitor pancreatic disorders. Results provide vital insight into digestive health, pancreatic function, and overall gastrointestinal balance.

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Also Known As: LPS Test
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The Transferrin Test measures transferrin, a blood protein that transports iron, to evaluate iron status and nutritional health. High levels may suggest iron deficiency anemia, while low levels may indicate liver disease, malnutrition, or chronic illness. Doctors use this test alongside iron and TIBC to investigate fatigue, weakness, or anemia symptoms. Results provide vital insight into iron balance, red blood cell production, and overall metabolic function.

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The Troponin I Test measures levels of cardiac troponin I in blood to help diagnose heart attack, myocardial injury, and acute coronary syndrome. Elevated levels indicate heart muscle damage from blocked arteries, inflammation, or other cardiac stress. Doctors order this test for patients with chest pain, shortness of breath, or suspected heart disease. Results provide critical insight for early detection, treatment decisions, and ongoing heart health monitoring.

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Also Known As: TnI Test, cTnI Test, Cardiac Troponin Test
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The Vitamin E Micronutrient Test measures blood levels of vitamin E to assess antioxidant status and detect deficiencies or excess. Vitamin E protects cells from oxidative damage, supports immune function, and promotes cardiovascular and neurological health. This test helps identify poor dietary intake, absorption issues, or toxicity from supplements, aiding in diagnosis and management of overall wellness.

Patient must be 18 years of age or older.
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Also Known As: Tocopherol Test
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What Are Genetic Tests for In Targeted Cancer Therapy?

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).