Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

Nevoid basal cell carcinoma syndrome (NBCCS) is an inherited neurocutaneous familial cancer condition with high penetrance and variable expressivity. 


Quick Reference
Test Code: 5682 Test Name: PTCH1 del/dup TAT 7-14 days Gene: 1
Test Code: 5684 Test Name: PTCH1 seq and del/dup TAT 14-21 days Gene: 1
Test Code: 5686 Test Name: PTCH1 specific site analysis TAT 7-14 days Gene: 1
Test Code: 9050 Test Name: SUFU seq and del/dup TAT 14-21 days Gene: 1

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Mutation Detection Rate

 This testing can detect >99.9% of described mutations in PTCH1 and SUFU, when present (analytic sensitivity).

Test Description

PTCH1 coding exons1-23 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 exons 1-23. 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 PTCH1 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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