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Colorectal Cancer & Lynch Syndrome Testing

MLH1 · MSH2 · MSH6 · PMS2 · EPCAM

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
8 tests in Colorectal Cancer & Lynch Syndrome All tests A–Z →
First line

Lynch Syndrome Panel

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

$650

Test factsheet

MLH1, MSH2, MSH6, PMS2 gene analysis for Lynch syndrome.

Sample requirements: 2 mL EDTA Whole Blood

Patient preparation: Follow the instructions on your collection kit.

Turnaround notes: 10-14 business days from sample receipt.

May be considered for:

  • Colorectal cancer diagnosed at age ≤ 50
  • Endometrial cancer with abnormal MMR/IHC or MSI-high tumor
  • Synchronous or metachronous Lynch-spectrum cancers
  • Family history of Lynch-spectrum cancer across two generations
  • Known familial MLH1, MSH2, MSH6, PMS2, or EPCAM pathogenic variant
Reflex

Hereditary Cancer Panel - Extended

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

$1,250

Test factsheet

Multi-gene panel covering 30+ cancer susceptibility genes.

Sample requirements: 3 mL EDTA Whole Blood

Patient preparation: Follow the instructions on your collection kit.

Turnaround notes: 14-21 business days from sample receipt; parental samples may extend interpretation time.

May be considered for:

  • Family history spanning multiple hereditary cancer syndromes
  • Negative focused panel with persistent clinical suspicion
  • Colorectal or endometrial cancer at age ≤ 50
  • Two or more related primary cancers in one individual
First line

MLH1 Single-Gene Sequencing

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

$500

Test factsheet

Sequencing and deletion/duplication analysis of MLH1.

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:

  • Loss of MLH1/PMS2 on tumor IHC
  • Colorectal cancer diagnosed at age ≤ 50
  • Endometrial cancer with abnormal MMR/IHC or MSI-high tumor
  • Known familial MLH1 pathogenic variant
First line

MSH2 Single-Gene Sequencing

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

$500

Test factsheet

Sequencing and deletion/duplication analysis of MSH2.

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:

  • Loss of MSH2/MSH6 on tumor IHC
  • Colorectal cancer diagnosed at age ≤ 50
  • Synchronous or metachronous Lynch-spectrum cancers
  • Known familial MSH2 pathogenic variant
Reflex

MSH6 Single-Gene Sequencing

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

$500

Test factsheet

Sequencing and deletion/duplication analysis of MSH6.

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:

  • Isolated MSH6 loss on tumor IHC
  • Endometrial cancer with abnormal MMR/IHC or MSI-high tumor
  • Colorectal cancer diagnosed at age ≤ 50
  • Known familial MSH6 pathogenic variant
Reflex

PMS2 Single-Gene Sequencing

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

$500

Test factsheet

Long-range-PCR-based PMS2 sequencing with deletion/duplication 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:

  • Isolated PMS2 loss on tumor IHC
  • Colorectal cancer diagnosed at age ≤ 50
  • Family history of Lynch-spectrum cancer across two generations
  • Known familial PMS2 pathogenic variant
Reflex

EPCAM Deletion Analysis (MLPA)

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

$350

Test factsheet

MLPA analysis of EPCAM 3′ deletions that silence MSH2.

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:

  • MSH2 loss with negative MSH2 sequencing
  • Colorectal cancer diagnosed at age ≤ 50
  • Family history of Lynch-spectrum cancer across two generations
  • Known familial EPCAM deletion
Confirmatory genetics

Hereditary Colorectal Cancer Multi-Gene Panel

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

$1,200

Test factsheet

Broad panel covering Lynch syndrome, FAP, MUTYH-associated polyposis and related phenocopies.

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: 14–21 Business Days

May be considered for:

  • Colorectal cancer diagnosed at age ≤ 50
  • Multiple colorectal polyps alongside early cancer
  • Synchronous or metachronous Lynch-spectrum cancers
  • Overlapping family history beyond Lynch syndrome
  • Negative single-gene testing with persistent suspicion

Clinical testing guide

Testing in this cluster is intended for people whose personal or family history raises a hereditary colorectal cancer question, including suspected Lynch syndrome. A first-line panel is usually the starting point; reflex or expanded testing is used when microsatellite instability or family history keeps the differential open. 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: