DNA mismatch repair (MMR) is an evolutionarily highly conserved system that contributes to the maintenance of genomic integrity. Heterozygous germline mutations in any of the MMR genes MSH2, MLH1, MSH6 or PMS2 are responsible for Lynch Syndrome. Bi-allelic germline mutations cause a recessive form of childhood cancer referred as Constitutional Mismatch Repair Deficiency Syndrome (CMMRD). Testing of minors for CMMRD is available to confirm a clinical diagnosis only.
Lynch Syndrome also known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC) accounts for approximately 2-3% of colorectal cancer. MSH2 mutation accounts for approximately 50% of genetically confirmed Lynch syndrome families.
MSH2 Gene Sequence Analysis and MSH2 Gene Deletion/Duplication Analysis can be ordered as concurrent tests or as sequential testing. MSH2 Known Familial Mutation Analysis is available for adult family members when a mutation has been identified through analysis performed in this laboratory. MSH2 Gene Sequence Analysis and MSH2 Gene Deletion/Duplication Analysis are part of the Lynch Syndrome Panel. This panel includes the sequence and deletion/duplication analyses for MSH2, MLH1, MSH6 and PMS2 genes.
Test Indications
- Confirmation of a clinical diagnosis of Lynch Syndrome
- Confirmation of MSH2 gene deficiency detected by Immunohistochemistry staining (IHC)
- Confirmation of a clinical diagnosis of Constitutional Mismatch Repair Deficiency Syndrome (CMMRD)
OMIM #: 120435 276300
Sample Requirements
- Adults: 5-7 mL whole blood in purple top EDTA tube
Sample Handling: Blood samples should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged according to standard medical safety practices with a cold pack. 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: 2 weeks
List price/CPT codes:
$474 / 83896x12, 83900, 83914x12, 83909, 83912