Lynch Syndrome Panel

The Lynch Syndrome Panel includes:

• MSH2 Gene Sequencing
• MSH2 Deletion/Duplication Analysis
• MLH1 Gene Sequencing
• MLH1 Deletion/Duplication Analysis
• MSH6 Gene Sequencing
• MSH6 Deletion/Duplication Analysis
• PMS2 Gene Sequencing
• PMS2 Deletion/Duplication Analysis

The testing panel is performed sequentially in the order listed above, unless specified otherwise. The tests in the panel may be chosen individually or be performed concurrently with specific instructions from the ordering physician.

Lynch Syndrome also known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC) accounts for approximately 2-3% of colorectal cancer. Heterozygous germline mutations in any of the DNA mismatch genes, MLH1, MSH2, MSH6 and PMS2 are responsible for Lynch syndrome. These four mutations account for approximately 96-99% of genetically confirmed Lynch syndrome families.

Test Indications

• Confirmation of a clinical diagnosis of Lynch Syndrome

OMIM #: 120435

Sample Requirements

• Adults: 5-7 mL whole blood in purple top EDTA tube

Sample Handling: Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].

Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106
216-983-1134

For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.

Turn Around Time: 4-6 weeks or sooner if mutation detected early in sequential testing

List price/CPT codes:

$10.00 / 83890 – DNA isolation/extraction, one charge per panel

• MSH2 Gene Sequencing: $ 1342 / 83894x15, 83898x15, 83904x15, 83909x30, 83912
• MSH2 Deletion/Duplication: $ 474 / 83896x12, 83900, 83914x12, 83909, 83912
• MLH1 Gene Sequencing: $1342 / 83894x15, 83898x15, 83904x15, 83909x30, 83912
• MLH1 Deletion/Duplication: $ 474 / 83896x12, 83900, 83914x12, 83909, 83912
• MSH6 Gene Sequencing: $1102 / 83894x10, 83898x10, 83904x20, 83909x20, 83912
• MSH6 Deletion/Duplication: $ 474 / 83896x12, 83900, 83914x12, 83909, 83912
• PMS2 Gene Sequencing: $1342 / 83894x15, 83898x15, 83904x15, 83909x30, 83912
• PMS2 Deletion/Duplication: $ 474 / 83896x12, 83900, 83914x12, 83909, 83912