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Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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HNPCC PLUS Comprehensive Panel (MLH1, MSH2, MSH6, PMS2, EPCAM)
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 6726
Test Includes: Sequence and deletion/duplication analyses of DNA mismatch repair protein MLH1, DNA mismatch repair protein MSH2, DNA mismatch repair protein MSH6, mismatch repair endonuclease PMS2, and deletion/duplication analysis of epithelial cell adhesion molecule EPCAM.

Special Notes: Panel includes Sequence & Deletion/Duplication Analyses of MLH1 (#6705), MSH2 (#6710), MSH6 (#6715), PMS2 (#6890) and Deletion/Duplication Analysis of EPCAM (#6888).
Technical Information
Methodology: A PCR-based assay is used to amplify all exons in the coding region of the MLH1 gene (Genbank accession number NM_000249), MSH2 gene (Genbank accession number NM_000251), and MSH6 gene (Genbank accession number NM_000179). A PCR-based assay is also used to for three long range PCR amplifications to specifically amplify the PMS2 gene and to avoid the amplifications of the pseudogenes. Exons 1-5, 9, and 11-15 of PMS2 gene were then amplified using the long range PCR products as PCR templates. Exons 6, 7, 8 and 10 of PMS2 gene were directly amplified from genomic DNA. Direct sequence analysis of MLH1, MSH2, MSH6 and PMS2 gene amplification products was performed in both the forward and reverse directions using automated fluorescence dideoxy sequencing methods. In addition, this patient's DNA has been analyzed for gross deletions and duplications in the MLH1, MSH2, MSH6, PMS2 and the 3' of the EPCAM (TACSTD1, including one in exon 3, one in exon 8 and two in the last exon -exon 9) genes by Multiplex Ligation-dependent Probe Amplification (MLPA). The assay can detect gross deletions/duplications in exons 1-12 of PMS2 gene. It should be noted that due to extensive sequence homology between the PMS2 gene and its pseudogenes, some gross deletions/duplications in exons 13-15 might not be detectable. Complex rearrangements, including deep intronic deletions/duplications and inversions may not be detected by these methodologies. The nomenclature is based on the convention recommended by the Human Genome Variation Society (http://www.hgvs.org/mutnomen/).
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Cancer Molecular Germline
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tubes and send 5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at ambient temperature (18-25C/64-77F) in an insulated container by overnight courier. Do not heat or freeze.


Turn Around Time: 42 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81292 x 1, 81294 x 1, 81295 x 1, 81297 x 1, 81298 x 1, 81300 x 1, 81317 x 1, 81319 x 1, 81479 x 1


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