Tuberous Sclerosis Complex

Tuberous sclerosis complex (TSC) is one of the most common neurocutaneous disorders, affecting approximately 50,000 children and adults in the US.1 Children with TSC typically present with either seizures/infantile spasms or developmental delay with features of an autism spectrum disorder. 

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Test Code: 5904 Test Name: TSC1/2 seq and del/dup TAT 14-21 days Genes: 2
Test Code: 5905 Test Name: TSC2 del/dup TAT 7-14 days Gene: 1
Test Code: 5928 Test Name: TSC1 specific site analysis TAT 7-14 days Gene: 1
Test Code: 5934 Test Name: TSC2 specific site analysis TAT 7-14 days Gene: 1

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Mutation Detection Rate

This testing can detect >99.9% of described mutations in TSC1 and TSC2, when present (analytic sensitivity).

Test Description

TSC1 coding exons 1-21 and TSC2 coding exons 1-41 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 all coding exons. 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 TSC1 and TSC2 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. Baker P, et al. Autism and tuberous sclerosis complex: prevalence and clinical features. J Autism Dev Disord. 1998;28:279–285.

2. 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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