28 days
Test Updated:
Noonan Sequencing Panel
NSSTS
NSST1S
PTPN11(3ex)+SOS1(4ex)seqShadow
NSST1
PTPN11 (3 EX)+SOS1 (4 EX) SEQ
NSST2S
PTPN11(remaining ex)seq Shadow
NSST2
PTPN11 (REMAINING EX) SEQ
NSST3S
KRAS(5ex)+SOS1(19ex)seq Shadow
NSST3
KRAS (5 EX)+SOS1 (19 EX) SEQ
PTPN11 Mutation Analysis
SOS1 Mutation Analysis
KRAS2 Mutation Analysis
RAF1 Mutation Analysis
Noonan Syndrome Sequencing Panel
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Test Overview
The coding exons and associated, adjacent consensus splice sites of the PTPN11, SOS1, and KRAS2 genes plus 3 coding exons of the RAF1 genes are amplified using specific primers, and bidirectionally sequenced using a fluorescent method.
To detect the presence of PTPN11, SOS1, KRAS2, and RAF1 mutations in patients with Noonan syndrome and for carrier testing in families with a known pathogenic mutation for Noonan syndrome.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Specimen Requirements
Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….
