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Alternative Name
MLH1 Gene Sequencing
Test Description

This test is performed by sequencing the entire MLH1 gene using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small insertions/deletions, and large deletions/duplications. Testing is also available in the Lynch Syndrome panel which includes EPCAM, MLH1, MSH2, MSH6, and PMS2. Note: Patient and physician or genetic counselor signatures on the NeoGenomics Consent for Hereditary Cancer Genetic Testing form are required. Testing will be put on hold until signatures are received.

Clinical Significance

MLH1 is a DNA mismatch repair gene. Mutations in MLH1 account for approximately 50% of Lynch Syndrome cases. Testing for mutations in a single Lynch Syndrome-related gene is appropriate when mismatch repair and/or microsatellite instability testing in a patient's tumor has suggested which gene may be mutated, or if there are other personal or family history indications pointing to a particular gene.

Specimen Requirements

Peripheral blood: 5 mL in EDTA tube.

Storage and Transportation

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

CPT Code(s)*
81292, 81294
Medicare MolDX CPT Code(s)*
Turnaround Time

21 days

Level of Service

*The CPT codes provided with our test descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.