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Carrier Screening & Preconception Testing

CFTR · SMN1 · HBB · FMR1 · 100+ genes

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
7 tests in Carrier Screening & Preconception All tests A–Z →
First line

Expanded Carrier Screening (100+ genes)

Sample:
3 mL EDTA Whole Blood or Saliva
TAT:
14–21 Business Days

$550

Test factsheet

Screening for 100+ autosomal and X-linked recessive conditions.

Sample requirements: 3 mL EDTA Whole Blood or Saliva

Patient preparation: Follow the instructions on your collection kit.

Turnaround notes: 14-21 business days; couple pricing available when both partners are screened together.

May be considered for:

  • Preconception or prenatal carrier screening
  • Partner identified as a carrier of a recessive condition
  • Family history of a recessive or X-linked condition
  • Consanguinity or shared ancestry with higher carrier frequency
Reflex

Cystic Fibrosis Carrier Test

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

$250

Test factsheet

CFTR gene analysis for cystic fibrosis carrier status.

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:

  • Partner identified as a CFTR carrier
  • Family history of cystic fibrosis
  • Preconception or prenatal carrier screening
  • Abnormal newborn screening follow-up for CF
Reflex

CFTR Full-Gene Sequencing & Deletion Analysis

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

$450

Test factsheet

Full CFTR sequencing with intron-8 polyT and TG-repeat analysis.

Sample requirements: 3 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:

  • Partner identified as a CFTR carrier
  • Family history of cystic fibrosis
  • Elevated IRT on newborn screening
  • Preconception or prenatal carrier screening
First line

SMN1/SMN2 Spinal Muscular Atrophy Carrier Test

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

$300

Test factsheet

Dosage-based carrier screening for spinal muscular atrophy.

Sample requirements: 3 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:

  • Family history of spinal muscular atrophy
  • Preconception or prenatal carrier screening
  • Partner identified as a carrier of a recessive condition
First line

HBB Hemoglobinopathy Evaluation

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

$300

Test factsheet

Molecular analysis of beta- and alpha-globin genes for sickle cell and thalassemia carrier status.

Sample requirements: 3 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:

  • Anemia or abnormal hemoglobin electrophoresis
  • Preconception or prenatal carrier screening
  • Family history of sickle cell disease or thalassemia
  • Shared ancestry with higher hemoglobinopathy frequency
First line

FMR1 Fragile X Premutation Analysis

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

$400

Test factsheet

CGG-repeat sizing of FMR1 for full mutations and premutations.

Sample requirements: 3 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:

  • Family history of intellectual disability or autism
  • Premature ovarian insufficiency
  • Preconception or prenatal carrier screening
  • Known familial FMR1 premutation or full mutation
Reflex

GBA Gaucher Carrier Test

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

$350

Test factsheet

Targeted sequencing of GBA for Gaucher disease carrier status.

Sample requirements: 3 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:

  • Ashkenazi Jewish ancestry
  • Family history of Gaucher disease
  • Preconception or prenatal carrier screening
  • Partner identified as a carrier of a recessive condition

Clinical testing guide

Carrier screening identifies people who carry one copy of an autosomal recessive or X-linked condition. Expanded screening is typically offered before or during pregnancy; targeted single-gene testing is used when one partner is a known carrier or a condition runs in the family. A genetic counselor explains residual risk before you book.

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: