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Familial Hypercholesterolemia Genetic Testing

LDLR · APOB · PCSK9

Genetic results require clinical confirmation and are interpreted together with your medical and family history. A qualified healthcare provider confirms any diagnosis — our counselors help you pick the right assay before you book.

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Medically reviewed by Dr. Robert Vance, MD, FACMG (Chief Medical Geneticist)

  • CLIA-Certified & CAP-Accredited
  • HIPAA-Compliant Quality System
  • Free Pre-Test Genetic Counselor Guidance
  • Nationwide & At-Home Sample Collection
6 tests in Familial Hypercholesterolemia & Early Cardiac Risk All tests A–Z →
First line

FH Gene Panel

Sample:
2 mL EDTA Whole Blood
TAT:
7–10 Business Days

$320

Test factsheet

LDLR, APOB, PCSK9 gene analysis for familial hypercholesterolemia.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: Follow the instructions on your collection kit.

Turnaround notes: 7-10 business days from sample receipt.

May be considered for:

  • LDL-C ≥ 190 mg/dL in adults
  • Premature cardiovascular disease in first-degree relatives
  • Tendon xanthomas or corneal arcus at young ages
  • Cascade testing after a familial pathogenic variant is identified
First line

LDLR Single-Gene Sequencing & Deletion Analysis

Sample:
2 mL EDTA Whole Blood
TAT:
10–14 Business Days

$600

Test factsheet

Full LDLR sequencing with dosage analysis for familial hypercholesterolemia.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Turnaround notes: 10–14 Business Days

May be considered for:

  • LDL-C ≥ 190 mg/dL in adults
  • Clinical diagnosis of definite or probable FH
  • Premature cardiovascular disease in first-degree relatives
  • Tendon xanthomas or corneal arcus at young ages
Reflex

APOB Single-Gene Sequencing

Sample:
2 mL EDTA Whole Blood
TAT:
10–14 Business Days

$500

Test factsheet

Targeted sequencing of APOB receptor-binding region and full-gene analysis.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Turnaround notes: 10–14 Business Days

May be considered for:

  • Negative LDLR result with clinical FH
  • LDL-C ≥ 190 mg/dL in adults
  • Premature cardiovascular disease in first-degree relatives
  • Cascade testing after a familial pathogenic variant is identified
Reflex

PCSK9 Single-Gene Sequencing

Sample:
2 mL EDTA Whole Blood
TAT:
10–14 Business Days

$500

Test factsheet

Sequencing of PCSK9 for gain-of-function and loss-of-function variants.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Turnaround notes: 10–14 Business Days

May be considered for:

  • Dominant FH pedigree with negative LDLR/APOB testing
  • LDL-C ≥ 190 mg/dL in adults
  • Premature cardiovascular disease in first-degree relatives
Reflex

Familial Hypercholesterolemia Cascade Screening Panel

Sample:
2 mL EDTA Whole Blood
TAT:
7–10 Business Days

$250

Test factsheet

Targeted testing for the known familial variant in at-risk relatives.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Turnaround notes: 7–10 Business Days

May be considered for:

  • Relatives of a molecularly confirmed proband
  • Cascade testing after a familial pathogenic variant is identified
  • Children or siblings of an FH patient with early cardiovascular disease
Confirmatory genetics

Expanded Lipid Disorder Gene Panel

Sample:
2 mL EDTA Whole Blood
TAT:
14–21 Business Days

$1,050

Test factsheet

Broad panel covering FH phenocopies: sitosterolemia, homozygous FH and lysosomal acid lipase deficiency.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: No fasting required unless your kit insert says otherwise. Bring a photo ID and, when applicable, the clinician order and insurance card.

Turnaround notes: 14–21 Business Days

May be considered for:

  • Severe hypercholesterolemia with negative single-gene testing
  • Suspected sitosterolemia or homozygous FH
  • Premature cardiovascular disease in first-degree relatives
  • Tendon xanthomas or corneal arcus at young ages

Clinical testing guide

This cluster covers molecular testing for suspected familial hypercholesterolemia and related lipid disorders. Testing is usually considered when LDL cholesterol is markedly elevated or when early cardiac disease runs in the family; results guide family screening alongside standard cardiac care. A genetic counselor reviews every booking.

Choosing between a panel and a single-marker test

Tests in this group answer different clinical questions. A focused single-marker or small-panel assay is usually the right starting point when the clinical question is specific; multi-gene or multi-marker panels fit when several conditions remain possible. First line assays are the usual entry point, reflex assays follow up on first-line findings, and confirmatory genetics settles an open question. Your genetic counselor confirms the right starting point against your history and prescription before anything is booked.

Before sample collection

  • Fasting: most genetic tests do not require fasting — follow the instructions on your kit insert.
  • Tube types: the required tube and volume are listed per test above (e.g. EDTA, sodium citrate, Streck).
  • Medication & anticoagulants: tell your counselor about anticoagulants, immunosuppressants or recent transfusions before the draw — never stop prescribed medication without your prescriber's advice.

Questions before booking

Should I start with a multi-gene panel or a single-marker test? ▾

A focused single-marker or small-panel assay is usually the right first step when the clinical question is specific; multi-gene or multi-marker panels fit when several conditions remain possible. Your genetic counselor reviews your history and prescription before booking to confirm the starting point, and reflex or confirmatory testing is only added when the clinical picture requires it.

Does insurance, Medicare, Medicaid or HSA/FSA cover this testing? ▾

Coverage depends on medical necessity and your plan. We support private insurance, Medicare and Medicaid billing, and self-pay by card or HSA/FSA. On request we provide CPT codes and a medical-necessity letter so your payer can complete pre-authorization before collection — final coverage decisions rest with your payer.

Can the sample be collected near me or at home? ▾

Yes. We arrange collection at patient service centers nationwide and, for eligible tests, at home through mobile phlebotomy. Your counselor confirms the correct tube, volume and any preparation instructions when the booking is verified.

Do I need a prescription or genetic counseling before testing? ▾

A clinician's order is required for most assays and always recommended. Pre-test genetic counselor guidance is included with every booking — we verify the indication, explain what the results can and cannot show, and coordinate reporting back to your care team.

Price (USD)
Turnaround
Sample

Patient preparation:

May be considered for: