Hereditary Nonpolyposis Colorectal Cancer (HNPCC): MLH1 (Known Mutation)
Use
Identify who in a family harbors the familial mutation and is at high risk of the disease and who does not harbor the familial mutation and is not at increased risk of the disease. Family testing for known familial mutations can identify presymptomatic mutation carriers within affected families who are at high risk of developing the familial disease.
Special Instructions
Not provided.
Limitations
Cannot detect variants outside covered regions, including noncoding or deep intronic variants, and may not reliably detect changes in repetitive elements. It's not intended for somatic variants nor for detecting mosaic variants or genomic rearrangements. Bone marrow transplantation and recent blood transfusion may affect results.
Methodology
Sanger
Biomarkers
No genes
Gene
LOINC Codes
- 511748
- 511749
- 31208-2 - Specimen source
- 41086-0 - MLH1 gene Mut Anl Bld/T
- 72486-4 - Lab director name Provider
- 11502-2 - Laboratory report
Result Turnaround Time
24-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
2 mL
Minimum Volume
Not provided
Container
Lavender-top (EDTA) tube
Collection Instructions
Samples may be stored for brief periods at 4°C. Ship overnight at room temperature.
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled or label not legible; improper anticoagulant
Other tests from different labs that may be relevant