Noonan syndrome panel

Noonan syndrome (NS) is an inherited condition characterized by short stature, congenital heart defects, developmental delay, and other physical features.  NS can be caused by mutations in one of several genes.

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Test Code 8402
Turnaround Time (TAT) 2-4 weeks
Number of Genes 4
Specimen Requirements Click here

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Mutation Detection Rate

This test can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

Our Noonan syndrome genetic testing includes next generation sequencing (NGS) of the PTPN11SOS1RAF1, and KRAS genes. 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, followed by polymerase chain reaction (PCR) and NGS. Additional 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.This test targets detection of DNA sequence mutations in all coding domains, and well into the 5’ and 3’ ends of all the introns and untranslated regions. Reporting range: PTPN11 exons 1-15, SOS1 exons 2-24, RAF1 exons 2-17, or exons 7, 12, 14, 17, and KRAS exons 2-6 and intron junctions 5’ and 3’ to 5 bp are analyzed.

 

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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