Specimen Collection Manual and Test Catalog
HNPCC CONCURRENT AMBRY
Geisinger Epic Procedure Code: LAB5257 Geisinger Epic ID: 208015Test Restriction: ORDER LIMITED TO GENETICS, HEMATOLOGY/ONCOLOGY, SURGICAL ONCOLOGY, AND LABORATORY.
Whole Blood, Buccal Swab
3 mL whole blood, 2 mL for pediatrics, or buccal swab
Blood/saliva from patients with a history of allogenic bone marrow or stem cell transplant should not be used for genetic testing. For these patients, an alternative specimen (e.g. cultured fibroblasts) is required. Testing on blood/saliva from patients with active hematological disease is not recommended. An alternative specimen (e.g. cultured fibroblasts) is recommended.
Transfusion patients: Wait at least 2 weeks after a packed cell/platelet transfusion, and at least 4 weeks after a whole blood transfusion prior to sample collection for testing.
Chemotherapy patients: DNA quality may be affected if patient has received chemotherapy within the last 120 days. Clients will be contacted to provide additional specimen if DNA quality is insufficient.
Send whole blood or buccal swab.
Room Temperature.
Room Temperature: 7 days. Refrigerated: 7 days.
The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only.
EPCAM,MLH1,MSH2,MSH6,PMS2
Multiplex Ligation-dependent Probe Amplification
Next Generation Sequencing
Polymerase Chain Reaction (PCR)
Sanger Sequencing
Sequencing
Ambry code 8517
Lynch syndrome, previously known as hereditary non-polyposis colorectal cancer (HNPCC), is caused by mutations in the mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2, and EPCAM. Lynch syndrome is the most common hereditary form of colorectal cancer. It affects about 1 in 440 individuals in the U.S.