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- Lynch Syndrome
This comprehensive test includes both Sanger sequencing and deletion/duplication analysis by MLPA of the MLH1 and MSH2 genes. The sequencing portion of this test covers all coding nucleotides plus at least two and typically 20 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 20 flanking nucleotides in the 5' and 3' UTR. The deletion/duplication analysis can detect single exon, multi-exon, and full gene deletions or duplications.
Can confirm a clinical diagnosis of HNPCC and allow early diagnosis in family members, guiding preventive measures. Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal-dominant, genetically heterogeneous syndrome caused by heterozygous mutations in mismatch repair genes (MMR). HNPCC is estimated to account for 4% to 6% of colorectal cancer and is characterized by early onset, a predominant proximal location of colon cancer, multiple primary cancers, and significantly improved survival when compared stage for stage to sporadic colon cancer survival rates. HNPCC has been linked to mutations in the genes MLH1, MSH2, PMS2, MSH6, and EPCAM. Genetic testing can confirm the diagnosis of HNPCC and can also identify presymptomatic individuals among the patient's relatives.
Sequencing cannot detect variants in regions not covered by this analysis, such as variants in noncoding or deep intronic regions and may not reliably detect changes in repetitive elements, such as microsatellite repeats. Sequence analysis may also be affected by allele drop-out due to the presence of a rare variant under a primer site. MLPA is designed to detect single exon, multi-exon, and full gene deletions or duplications. MLPA may not detect certain genomic rearrangements, such as translocations, inversions, or some partial exon rearrangements. This assay cannot determine exact breakpoints of deletions or duplications detected. Mosaic variants are not reliably detected by either sequencing or MLPA. These analyses also cannot determine whether two or more heterozygous changes are located on the same or different chromosomes.
This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA).
DNA sequencing and multiplex ligation-dependent probe amplification (MLPA)
Maintain specimen at room temperature.
Causes for Rejection
Container broken or leaking; container not labeled; improper anticoagulant