16 - 24 days
Confirm a clinical diagnosis of Noonan syndrome and identify presymptomatic family members, guiding prophylactic measures. See Prenatal Noonan Syndrome (451890) for fetal testing.
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).
This test covers all coding nucleotides of 20 genes: A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NF1, NRAS, PTPN11, RAF1, RIT1, RRAS, RASA2, SHOC2, SOS1, SOS2, and SPRED1, 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 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 AgilentSure Select XT® enrichment method and the Illumina® next-generation sequencing platform. Regions of interest include all exons and splice junctions for each gene and limited regions for the following: APOB (556bp of exon 26) and MED12 ( c.3020A>G). 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 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 isused 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.
For more information, please view the literature below.
Consent for Genetic Testing (Consentimiento para análisis genético)
Noonan Syndrome and Related Conditions LABupdate
Information on collection, storage, and volume
10 mL, or 30 mL if ordering multiple tests
Yellow-top (ACD) tube or lavender-top (EDTA) tube
Maintain specimen at room temperature.
Frozen or hemolyzed specimen; container broken or leaking; container not labeled or label not legible