HHTFirst, HHTNext and HHTReflex

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Test Code: 8671 Test Name: HHT Reflex TAT 2-4 weeks Genes: 5
Test Code: 8672 Test Name: HHTNext TAT 14-21 days Genes: 5
Test Code: 8673 Test Name: HHTFirst TAT 14-21 days Genes: 3

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Mutation Detection Rate

HHTFirst, HHTNext, and HHTReflex can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

HHTFirst includes 3 genes most commonly associated with HHT: ACVRL1, ENG, and SMAD4. HHTNext includes these genes and 2 additional genes: GDF2 and RASA1.  Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using a standardized kit 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, and is followed by polymerase chain reaction (PCR) and 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 This assay targets all coding domains, and well into the flanking 5’ and 3’ ends of all the introns and untranslated regions. Gross deletion/duplication analysis for available genes is performed utilizing a targeted chromosomal microarray.

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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