Noonan syndrome is a disorder that involves unusual facial characteristics, short stature, heart defects present at birth, bleeding problems, developmental delays, and malformations of the bones of the rib cage. Noonan syndrome is caused by changes in one of several autosomal dominant genes. A person who has Noonan syndrome may have inherited an mutated gene from one of his or her parents, or the gene change may be a new change due to an error carried by the egg or sperm or occurring at conception. 

Quick Reference
Test Code 8402
Turnaround Time (TAT) 14-21 days
Number of Genes 18

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We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing or exome sequencing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives.

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Why Is This Important?

Knowing if your patient has Noonan syndrome can help you guide your medical management recommendations. Key benefits include:

  1. Clarify diagnosis and future risk of congenital heart disease
  2. Target medical management and prevention of cardiac arrest and other complications
  3. Confirm diagnosis and identify inherited mutation following a sudden death with autopsy findings
  4. Offer family members genetic testing (for a familial mutation) and implement medical surveillance to only those that need it
  5. 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

The NoonanNext test is designed and validated to be capable of detecting >99% of described mutations in the gene represented on the test (analytical sensitivity). The clinical sensitivity of the NoonanNext test may vary widely according to the specific clinical and family history.

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 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.

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