Ulta Lab Tests

Genetic Disorder Testing

This hub is for patients and families, family-planning couples, people with strong family histories, and clinicianswho need clear guidance on what to order, when to use it, and how to read results.

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

“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 Also Called (Synonyms) What It Detects When to Use Typical Prep Specimen Turnaround Related Panels Notes (reportable results & limitations)
Expanded Carrier Screening (Multi-Condition) Pan-ethnic ECS Recessive/X-linked carrier status across many genes Pre-conception/early pregnancy; any ancestry Read consent; saliva: no eat/drink 30 min Saliva/Blood ~2–4 wks Family Planning Reports P/LP, VUS; panel content & ancestry coverage vary; CNV coverage differs by lab
Targeted Carrier: CFTR Cystic fibrosis CFTR pathogenic variants Family hx, partner known carrier, ethnicity risk Consent; basic ID steps Saliva/Blood ~2–3 wks Carrier Set Some panels include del/dup; residual risk remains after a negative
Targeted Carrier: SMN1 (± SMN2) Spinal muscular atrophy SMN1 copy number/variants (± SMN2) Universal screening or family history As above Saliva/Blood ~2–3 wks Carrier/Perinatal CNV critical; “silent carriers” possible depending on assay
Targeted Carrier: HBB Hemoglobinopathies Sickle cell/thalassemia variants High-risk ancestry/family hx As above Saliva/Blood ~2–3 wks Carrier/Perinatal Pair with CBC/hemoglobinopathy screen if available
FMR1 Fragile X CGG repeat expansions Developmental hx/family hx; preconception As above Blood ~2–3 wks Carrier/Perinatal Reports premutation/full mutation; mosaicism limits
Hereditary Breast/Ovarian Panel BRCA1/2 ± multi-gene P/LP variants raising breast/ovarian risk Personal/strong family hx; early onset Consent, family hx list Saliva/Blood ~3–6 wks Hereditary Cancer Include PALB2/CHEK2/ATMas catalog supports; CNV coverage matters
Lynch Syndrome Panel MLH1/MSH2/MSH6/PMS2/EPCAM MMR gene variants (CRC/endometrial risk) Tumor MMR deficiency/family hx As above Saliva/Blood ~3–6 wks Hereditary Cancer PMS2 CNVs can be challenging; tumor testing may inform germline
Hereditary Colorectal/Polyposis Panel APC, MUTYH, etc. Polyposis/non-polyposis genes Polyps at young age/family hx As above Saliva/Blood ~3–6 wks Hereditary Cancer Phenotype-guided ordering recommended
Familial Hypercholesterolemia Panel LDLR/APOB/PCSK9 Monogenic FH LDL-C very high or strong family hx None Saliva/Blood ~3–4 wks Cardio Risk Negative does not exclude polygenic hypercholesterolemia
Cardiomyopathy Panel MYH7/MYBPC3/TTN… HCM/DCM/ARVC genes Personal/family hx cardiomyopathy None Saliva/Blood ~3–6 wks Cardiogenetics TTN VUS common; echo/ECG remain critical
Inherited Arrhythmia Panel KCNQ1/KCNH2/SCN5A… LQTS/Brugada/CPVT genes Syncope, VT/VF, family hx None Saliva/Blood ~3–6 wks Cardiogenetics ECG/clinical correlation essential
HFE Genotyping Hemochromatosis Common HFE variants Elevated TSAT/ferritin; family hx None Blood ~1–2 wks Iron/Liver Penetrance variable; combine with iron indices
SERPINA1 (A1AT) Alpha-1 antitrypsin A1AT deficiency alleles (Pi*Z/S) Unexplained liver/lung dz; family hx None Blood/Saliva ~1–2 wks Liver/Lung Pair with serum A1AT level/phenotype when available
Thrombophilia (F5/F2) Factor V Leiden / Prothrombin Inherited VTE risk variants VTE at young age/family hx; OB planning None Blood/Saliva ~1–2 wks Cardio/Heme Clinical history dominates management; PGx/anticoag decisions are clinical
Pharmacogenomic Panel (PGx) CYP2C19/2D6/2C9, VKORC1, SLCO1B1, TPMT/NUDT15, DPYD, UGT1A1, HLA-B*57:01… Drug metabolism/response variants Before initiating certain meds; adverse effects None Saliva/Blood ~1–2 wks Medication Safety Use CPIC-alignedinterpretation; not general disease risk
Single-Gene Diagnostic (example) COL1A1/2 (OI) Diagnostic variant search Clear clinical suspicion None Blood ~2–4 wks Skeletal/Other Negative does not exclude disorder if coverage incomplete
LPA Genetic (if offered) Lp(a) isoform/kringle IV Lifelong atherogenic risk Early ASCVD/family hx None Blood ~1–2 wks Cardio Risk Complements Lp(a)blood level 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

  • 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

  • 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

  • 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

  • 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

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

  • 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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