ARUP's Laboratory Test Directory

MSH6 Full Gene Analysis : 0051656
[ image for: Patient History for HNPCC/Lynch Syndrome Testing]
Patient History for HNPCC/Lynch Syndrome Testing
  


Mnemonic: MSH6 FGA

Methodology: Polymerase Chain Reaction/Sequencing/Multiplex Ligation Probe Amplification
Performed: Varies
Reported: Within 35 days
Specimen Required: Collect:  One 3 mL lavender (EDTA), pink (K2EDTA) or yellow (ACD solution A or B).

Transport:  3 mL whole blood at 2-8°C. (Min: 1 mL)

Pediatric Collection/Transport:  1 mL whole blood at 2-8°C.

Stability:  Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
 
Available Separately Components Reference Interval
No MSH6 Full Gene Sequencing By report
No MSH6 Deletions By report

Interpretive Data: This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
Background Information for Lynch syndrome/Hereditary Nonpolyposis Colorectal Cancer (HNPCC):
Characteristics:
Increased risk of colorectal and extra-colonic cancers including endometrial, renal pelvis, ureter, ovary, stomach, small intestine, and hepatobiliary tract.
Incidence:
1-2% of colorectal cancer is due to mismatch repair gene mutations.
Inheritance:
Autosomal dominant
Penetrance:
80% lifetime risk of colorectal cancer; 20-60% risk for endometrial cancer.
Cause:
Germline MLH1, MSH2, MSH6, and PMS2 gene mutations.
Methods:
Bidirectional sequencing of MSH6 coding regions and intron-exon boundaries; multiplex ligation-dependent probe amplification (MLPA) to detect large MSH6 exonic deletions.
Test Limitations:
Mutations in genes, other than MSH6, will not be detected. Intronic and regulatory MSH6 mutations will not be detected. Deletion breakpoints are not determined.





Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.
CPT Code(s): Sequencing portions: 83891 Isolation; 83898 x19 Amplification; 83904 x19 Sequencing; 83909 x2 Capillary electrophoresis; Del: 83896 Nucleic Acid Probes; 83898 Amplification; 83914 Extension; 83909 Capillary Electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
 
 

 

 

 
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