Genetic Disorder Testing

Core groups include Carrier Screening, Hereditary Cancer Risk, Cardiogenetics, Targeted Single-Gene or Panels for suspected conditions, Pharmacogenomics (PGx), and selected risk variants (e.g., HFE hemochromatosis, SERPINA1 A1AT, F5/F2 thrombophilia). Results inform screening options, surveillance, family planning, and medication choice/dosing—always with clinician and/or board-certified genetic counselor support.

What It Tests {#what-it-tests}

“Genetic disorder testing” spans several use cases:

• Carrier Screening (expanded or targeted): For recessive/X-linked conditions (e.g., CFTR cystic fibrosis, SMN1spinal muscular atrophy, HBB hemoglobinopathies, FMR1 Fragile X, GJB2 hearing loss).

• Hereditary Cancer Risk: BRCA1/2 and multi-gene panels (e.g., PALB2, CHEK2, ATM) and Lynch syndromegenes (MLH1, MSH2, MSH6, PMS2, EPCAM).

• Cardiogenetics: Familial hypercholesterolemia (LDLR/APOB/PCSK9), cardiomyopathies (MYH7, MYBPC3, TTN), inherited arrhythmias (KCNQ1, KCNH2, SCN5A).

• Targeted single-gene/panels for a suspected diagnosis (e.g., HFE, SERPINA1, COL1A1/2, F5/F2).

• Pharmacogenomics (PGx): drug response genes (e.g., CYP2C19/CYP2D6/CYP2C9, VKORC1, SLCO1B1, TPMT/NUDT15, DPYD, UGT1A1, HLA-B*57:01).

• Method coverage: Tests may include NGS sequencing, CNV/del-dup analysis, and Sanger confirmation; some are targeted genotyping. Coverage and ancestry representation affect sensitivity.

Key Tests  {#test-list}

When to Test {#when-to-test}

• Family Planning: Pre-conception or early pregnancy carrier screening (expanded or ancestry-targeted).

• Strong Family History or Early Onset: Hereditary cancer or cardiogenetic panels when criteria are met.

• Personal History Suggests a Genetic Etiology: Order single-gene or multi-gene panel tailored to the phenotype.

• Medication Choice/Dose (PGx): Before therapy with drugs affected by known gene–drug pairs.

• Abnormal Routine Labs with Genetic Clues:

  • Elevated transferrin saturation/ferritin → consider HFE

  • Low A1AT level/pattern → consider SERPINA1

  • Very high LDL-C or premature ASCVD → consider FH panel

• Clarify that ancestry and consumer “wellness” tests are not diagnostic and should not guide medical care.

How to Prepare {#how-to-prepare}

• Consent & Counseling: Read test consent; consider pre/post-test genetic counseling.

• Privacy & Law: Understand HIPAA handling of results and GINA protections (employment & health insurance); note differences for life/disability/LTC insurance.

• Specimen & Collection: Most tests use saliva or buccal swab (no eating/drinking/smoking for 30 minutes prior) or blood.

• Documentation: Bring a three-generation family history (who, diagnosis, age at diagnosis), current meds, and prior relevant labs/biopsies.

• Turnaround: Single genes ~1–3 weeks; large panels 3–6+ weeks.

• Ordering Rules: Some tests may require a clinician’s order or have state access limits.

Interpreting Results (Plain-English Guardrails) {#result-interpretation}

• Result Categories:

  • Pathogenic/Likely Pathogenic (P/LP): Generally actionable; may trigger surveillance changes, cascade testing of relatives, or medication adjustments (PGx).

  • VUS: Do not change care based on a VUS. These may be reclassified over time—ensure you know how updates are communicated.

  • Benign/Likely Benign: Not disease-causing.

• Penetrance/Expressivity: A positive result can increase risk without guaranteeing disease; a negative test does not always eliminate risk if coverage is limited.

• Coverage & Limitations: Ask whether the panel includes CNV/del-dup, has adequate ancestry representation, and how it handles pseudogenes/mosaicism.

• Cascade Testing: When P/LP is found, targeted testing for at-risk relatives can clarify their risk; plan with a counselor.

• PGx: Use CPIC-aligned guidance for drug selection/dosing; PGx is not a general wellness test.

Related Conditions / Use Cases {#related-conditions}

• Hereditary Breast/Ovarian & Lynch Syndrome (cross-link to Cancer Screening hub)

• Familial Hypercholesterolemia / Inherited Heart Conditions (link to Heart & Cardiovascular Tests)

• Hemochromatosis (HFE) (link to Liver Tests / Iron Studies)

• Alpha-1 Antitrypsin Deficiency (SERPINA1) (link to Liver/Lung context)

• Thrombophilia (F5/F2) (link to Heart & Cardiovascular / Inflammation hubs)

• Pharmacogenomics (Medication Response)

• Carrier Screening & Family Planning (link to Pregnancy & Fertility Tests)

Bundles & Panels (Curated)

• Family Planning Carrier Screen (Expanded) — Pan-ethnic multi-gene screening for couples and planners; counselor support recommended.

• Hereditary Cancer Risk Panel — BRCA1/2 plus additional genes as indicated; may change surveillance; include cascade testing guidance.

• Familial Hypercholesterolemia (FH) Panel — LDLR/APOB/PCSK9; complements lipid/ApoB testing.

• Targeted Diagnostic Gene Test — e.g., HFE (hemochromatosis) or SERPINA1 (A1AT) when labs/history suggest a genetic cause.

• Pharmacogenomic (PGx) Panel — Actionable gene–drug pairs to inform medication choice and dosing.

FAQs {#faqs}

What’s the difference between carrier screening, diagnostic testing, and “risk” testing?
Carrier screening looks for recessive/X-linked risks in healthy people (often pre-pregnancy). Diagnostic testing looks for a cause of current symptoms/findings. “Risk” testing (e.g., hereditary cancer) estimates future risk based on variants.

What do “pathogenic,” “likely pathogenic,” and “VUS” mean?
P/LP variants are disease-causing or very likely to be. VUS are unclear and not actionable; care should not change based on a VUS alone.

If my test is negative, am I “in the clear”?
Not necessarily. Residual risk remains due to coverage limits, ancestry gaps, or undiscovered genes. Your personal/family history still matters.

Will genetic results affect my insurance or job?
U.S. GINA protects against genetic discrimination in employment and health insurance. It does not cover life, disability, or long-term-care policies—discuss with a counselor.

How are PGx results used?
Clinicians map results to guidelines (e.g., CPIC) to select or dose medications. PGx doesn’t predict unrelated diseases.

Should my relatives get tested if I’m positive?
Often yes—called cascade testing. A counselor can help decide who, what, and when to test.

How long do results take, and can they change?
Single genes ~1–3 weeks; large panels 3–6+ weeks. VUS may be reclassified; ask how your lab communicates updates.

Are consumer ancestry tests diagnostic?
No. They are not medical-grade or comprehensive and shouldn’t guide care.

Can I get my raw data?
Many labs can provide it upon request; interpretation belongs with your clinician/counselor.

Do all tests check for large deletions/duplications?
No. Verify whether CNV/del-dup is included, especially for genes where it’s common.

References {#references}

• ACMG/AMP standards for sequence variant interpretation

• NSGC (National Society of Genetic Counselors) patient resources

• NCCN hereditary cancer guidelines

• AHA/ACC/HRS scientific statements on cardiogenetics

• ACOG/SMFM guidance on carrier screening and prenatal testing

• CDC / MedlinePlus Genetics patient-friendly genetics overviews

• CPIC (Clinical Pharmacogenetics Implementation Consortium) PGx guidelines

Last reviewed: September 2025 by Ulta Lab Tests Medical Review Team

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