NoonanNext is a comprehensive analysis of 18 genes associated with Noonan syndrome and related disorders. 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, and is followed by polymerase chain reaction (PCR) and Next-Generation sequencing. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. 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 is performed for all genes using a custom pipeline based on read-depth from NGS data followed by a confirmatory orthogonal method, as needed. Exon-level resolution may not be achieved for every gene.
Noonan Syndrome Genetic Testing | Panel
Genes analyzed
Why Is This Important?
Knowing if your patient has Noonan syndrome can help you guide your medical management recommendations. Key benefits include:
- Clarify diagnosis and future risk of congenital heart disease
- Target medical management and prevention of cardiac arrest and other complications
- Confirm diagnosis and identify inherited mutation following a sudden death with autopsy findings
- Offer family members genetic testing (for a familial mutation) and implement medical surveillance to only those that need it
- Reduce healthcare costs, resources, and anxiety for families
When To Consider Testing
- Patient has a family history of Noonan syndrome or suspected diagnosis in a proband due to clinical features consistent with Noonan syndrome
- Patient has a clinical phenotype that is consistent with cardio-facio-cutaneous syndrome or Costello syndrome, but previous molecular testing for these conditions is negative.
Mutation Detection Rate
Test Description
NoonanNext is a comprehensive analysis of 18 genes associated with Noonan syndrome and related disorders. 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, and is followed by polymerase chain reaction (PCR) and Next-Generation sequencing. Additional Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. 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 is performed using a custom pipeline based on read-depth from NGS data followed by a confirmatory orthogonal method, as needed. Exon-level resolution may not be achieved for every gene.
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