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91457: Lynch Syndrome, PMS2 Sequencing and Deletion/Duplication Print View
Result      
Reviewer      
Resource      
Method and Limitation      
Additional Information      
Comments      

PRIMARY
1 Whole Blood EDTA 5 (2) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  
ALTERNATE
  Whole Blood ACD Sol A 5 (2) mL   Room Temperature - 8 Day(s)/Refrigerated - 8 Day(s)  
  Whole Blood ACD Sol B 5 (2) mL   Refrigerated - 8 Day(s)/Room Temperature - 8 Day(s)  

Hereditary non-polyposis colorectal cancer (HNPCC) is an autosomal dominant genetic disorder characterized by the familial accumulation of early onset colorectal, endometrial and other tumors, and accounts for approximately 3-5% of all colon cancer cases. HNPCC is caused by germline mutations in four genes involved in four genes involved in the DNA mismatch repair pathway: MLH1, MSH2, MSH6, and PMS2. MLH1 and MSH2 mutations account for approximately 90% of HNPCC cases, MSH6 accounts for approximately 7-10%, while PMS2 accounts for less than 5%. The prevalence of PMS2 mutations is not well established but some studies have shown that large deletions account for approximately 21-37% of PMS2 mutations. The prevalence of sequence variants is not well established.

Specimen stability is crucial. Store and ship room temperature
immediately. Do not freeze. Send report of results for
family member with known mutation.
Setup Schedule
Tuesday, Thursday, Saturday

Reported (Analytical Time)
12 days

CPT Codes
81319,81317

The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Notes
If Result is positive cascading reflex to Path Variant, Variant 1, and VUS will be performed as needed. Report available: 12 days from completed pre-authorization. Transport Temperature: Room temperature Methodology: Massively Parallel Sequencing Reject Criteria: Gross Hemolysis; Clotted






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