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 ... See more

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

Define your question: carrier risk, diagnostic work-up, or family follow-up.
Pick the test type: targeted single gene, multigene panel, or carrier screen; add confirmatory biochemical testswhen applicable.
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).
Get results securely: most reports post in days to a few weeks, depending on complexity.
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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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 ... See more

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).

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All Genetic Disorder Tests

Signs, Symptoms & Related Situations

Why These Tests Matter

What These Tests Measure (at a glance)

Test Type • When to Use • Key Caveat

How the Testing Process Works

Interpreting Results (General Guidance)

Choosing Panels vs. Individual Tests

FAQs

Related Categories & Key Tests

References

Available Tests & Panels

No Results Found

What Are Genetic Tests for In Targeted Cancer Therapy?

FAQs