ARUP's Laboratory Test Directory

0051650: MLH1 Full Gene Analysis

[ image for: Patient History for HNPCC/Lynch Syndrome Testing]
Patient History for HNPCC/Lynch Syndrome Testing
  

Test Mnemonic: MLH1 FGA
Methodology: Polymerase Chain Reaction/Sequencing/Multiplex Ligation Probe Amplification

Performed: Varies

Reported: Within 35 days

Specimen Required:  
Collect: One 5 mL lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A)

Transport: 5 mL whole blood at 2-8°C.

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

Remarks: Do not freeze.

Stability: Ambient: 24 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval:
 
Available Separately Components Reference Interval
No MLH1 Full Gene Sequencing By report
No MLH1 Large Deletions By report

Interpretive Data:
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 MLH1 coding regions and intron-exon boundaries; multiplex ligation-dependent probe amplification (MLPA) to detect large MLH1 exonic deletions.
Test Limitations: Mutations in genes, other than MLH1, will not be detected. Intronic and regulatory MLH1 mutations will not be detected. Deletion breakpoints are not determined.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory.



CPT Code(s):
Sequencing portion: 83891 Isolation; 83898 x20 Amplification; 83904 x20 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.

 

 

 
All ARUP Sites:        www.aruplab.com     ·     www.arupconsult.com     ·     www.arup.utah.edu     ·     www.childx.org     ·     www.utahblood.org