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GeneSeq®: Cardio Noonan Syndrome and Related Conditions Profile
This test covers all coding nucleotides of eight genes: BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, RAF1, and SOS1; plus at least two and typically 10 flanking intronic nucleotides upstream and downstream of each coding exon, covering the conserved donor and acceptor splice sites, as well as typically 10 flanking nucleotides in the 5′ and 3′ UTR. This test also covers the region of SHOC2 where all disease associated mutations have been found.
Confirm a clinical diagnosis of Noonan syndrome and identify presymptomatic family members, guiding prophylactic measures.
This analysis does not rule out: germline mosaicism, the presence of large chromosomal aberrations, including deletions, insertions, and rearrangements, mutations in regions or genes not included in this test, and possible inter/intragenic interactions between sequence variants. False-positive results or false-negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, mislabeled specimens, or erroneous representation of family relationships.
Mutation analysis is performed using the Agilent Sure Select XT® enrichment method and the Illumina® next-generation sequencing platform. Regions of the interest include all exons and splice junctions for each gene and limited regions for the following: SHOC2 (exon 2), APOB (556bp of exon 26), and AKAP9 (exon 18). Sequencing reads are aligned with the hg19 build of the human genome reference sequence. Analytical sensitivity is based on the depth of coverage across the regions of the interest and is provided separately for each gene. Greater than 98% of target bases are synonymous variants not previously recorded at greater than or equal to 20x coverage. Sanger sequencing is used to confirm mutation identity and analyze regions with low coverage. Variants are reported using numbering and nomenclature recommended by the Human Genome Variation Society (HGVS). Variants known to be benign and synonymous variants not previously recorded in our internal variant data bases are not reported.
Noonan syndrome and Noonan-like syndromes tend to be associated predominantly with different genes or different variants within the same genes. Clinical overlap of the various syndromes is explained by the fact that all of these genes code for components of the same intracellular signaling pathway, namely the RAS/MAPK signaling cascade.
Genetic testing for Noonan syndrome and related disorders may:
• Establish or confirm a clinical diagnosis of Noonan syndrome, Leopard syndrome, Costello syndrome, or cardiofaciocutaneous syndrome.
• Identify previously undiagnosed parents, siblings, and other relatives of patients with Noonan syndrome or Leopard syndrome.
• Facilitate appropriate genetic counseling for family members.
10 mL, or 30 mL if ordering multiple tests
Yellow-top (ACD) tube or lavender-top (EDTA) tube
Maintain specimen at room temperature.
Causes for Rejection
Frozen or hemolyzed specimen; container broken or leaking; container not labeled or label not legible
Test orders must include an attestation that the provider has the patient's informed consent for genetic testing. See sample physician office consent form: Consent for Genetic Testing. For family testing, please call customer service at 866-647-0735 before submitting specimens for family testing (ie, known mutations).
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|451441||GeneSeq: Noonan Syndrome||451331||Specimen Type:||31208-2|
|451441||GeneSeq: Noonan Syndrome||451403||Results:||48003-8|
|451441||GeneSeq: Noonan Syndrome||451438||Key Findings||53037-8|
|451441||GeneSeq: Noonan Syndrome||451439||Additional Information||49549-9|
|451441||GeneSeq: Noonan Syndrome||451694||Gene Information||51968-6|
|451441||GeneSeq: Noonan Syndrome||451772||Tech Spec Results||51958-7|
|451441||GeneSeq: Noonan Syndrome||451773||Seq Variants Detected||69548-6|
|451441||GeneSeq: Noonan Syndrome||451409||Disclaimer||N/A|
|451441||GeneSeq: Noonan Syndrome||451774||Director Review:||48672-0|
|451441||GeneSeq: Noonan Syndrome||451775||51969-4|