MLH1 Deletion/Duplication Analysis
Also known as: Lynch Syndrome
Use
This test is intended for individuals who have had previous negative sequencing of the MLH1 gene and have not had previous deletion/duplication analysis or who have a family member with an identified large deletion or duplication of the MLH1 gene. If testing for a known family mutation, please submit a copy of the laboratory report from the index family member documenting the familial mutation.
Special Instructions
For testing a known family mutation, a copy of the laboratory report from the index family member documenting the familial mutation must be submitted.
Limitations
Copy number variations are analyzed using a multiplex ligation-dependent probe amplification assay (MLPA) to detect gross deletions and duplications. This method is not capable of detecting balanced or unbalanced translocations, inversions, or certain partial exon rearrangements. The test is not intended for identifying somatic variants, and results may be affected by bone marrow transplantation.
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 31208-2
- 79416-4
- 72486-4
- 11502-2
Result Turnaround Time
17-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
7 mL
Minimum Volume
4 mL
Container
Lavender-top (EDTA) tube
Storage Instructions
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled; improper anticoagulant