Multiple endocrine neoplasia type 1 (MEN1)

Multiple Endocrine Neoplasia Type 1 (MEN1) is an inherited cancer syndrome characterized by the occurrence of endocrine and non-endocrine tumors mainly involving the parathyroid gland, anterior pituitary gland, and the pancreas. 

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Test Code: 2642 Test Name: MEN1 specific site analysis TAT 7-14 days Gene: 1
Test Code: 2644 Test Name: MEN1 del/dup TAT 7-14 days Gene: 1
Test Code: 2646 Test Name: MEN1 seq and del/dup TAT 14-21 days Gene: 1

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Test Description

MEN1 coding exons1-9 and well into the 5’ and 3’ ends of all the introns and untranslated regions are analyzed by sequencing. Gross deletion/duplication analysis determines gene copy number for coding exons1-9.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. Gross deletion/duplication analysis of MEN1 using read-depth from NGS data is also performed. Any copy number changes detected by NGS are confirmed by targeted chromosomal microarray and/or multiplex ligation-dependent probe amplification (MLPA).

 

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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