Multiple endocrine neoplasia type 2 (MEN2) and familial medullary thyroid cancer (FMTC)

Multiple Endocrine Neoplasia Type 2 (MEN2) causes both malignant and benign tumors of the endocrine system, the most common being medullary thyroid carcinoma (MTC). 

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Test Code: 2680 Test Name: RET seq TAT 14-21 days Gene: 1
Test Code: 2682 Test Name: RET specific site analysis TAT 7-14 days Gene: 1

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Test Description

RET coding exons1-20 and well into the 5’ and 3’ ends of all the introns and untranslated regions are analyzed by sequencing. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology, using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing.1

 

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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