NoonanNext
Use
The NoonanNext test is designed for the detection of Noonan syndrome, which is a disorder characterized by unusual facial features, short stature, congenital heart defects, bleeding issues, developmental delays, and rib cage malformations. The test helps in clarifying diagnosis and assessing the risk of congenital heart disease, targeting medical management, and offering genetic testing for family members to aid in medical surveillance.
Special Instructions
Family variant testing is available at no additional cost for blood relatives of patients tested with a pathogenic or likely pathogenic variant within 90 days of the original report date. Testing should preferably be conducted on closely related family members first.
Limitations
The test is capable of detecting >99% of mutations in the tested genes, but clinical sensitivity may vary depending on individual and family history. Exon-level resolution may not be achieved for some genes, and gross deletion/duplication analysis is confirmed when necessary. Analytical sensitivity is high, but technical issues and unknown gene associations can limit detection.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Testing is available and validated with blood and other relevant specimens, but specific requirements are outlined on the specimen requirements page.