INDICATION-SPECIFIC GENE PANEL TESTING
Noonan Syndrome / RASopathy Disorders Panel
- This panel includes both full sequencing and high resolution deletion/duplication analysis.
- Detection abilitiy is limited to the genes specified; it does not provide whole genome analysis.
- Gene panels are a more cost-effective approach than single gene testing to confirm or establish a diagnosis.
GENES COVERED: Gene List
PANEL OVERLAP: This panel includes an indication-specific subset of genes from another panel offered by our laboratory.
|DISORDERS INCLUDED IN THIS PANEL:|
- Short stature
- Congenital heart defects
- Developmental delay, learning disability, or intellectual disability
- Low set or widely spaced nipples
- Vision/hearing problems
- Broad or webbed neck
- Curly or sparse hair
- Low muscle tone
- Large head size
- Skin problems
- Characteristic facial features
OUR LABORATORY'S RECOMMENDED TESTING STRATEGY
Comprehensive Testing: Noonan Syndrome / RASopathy Disorders
Next Generation Sequencing Panel and Deletion/Duplication Analysis with reflex to SNP Microarray Analysis
NOTE: Each of the tests recommended for comprehensive testing can be ordered individually if the comprehensive package is not desired. For questions regarding testing strategies for your patient, please call our laboratory at 402-559-5070 and ask to speak with a laboratory genetic counselor.
REQUIRED FORMS: Postnatal Test Request Form
OTHER FORMS: Request for Pre-Authorization for Genetic Testing (Postnatal Diagnoses on peripheral blood)
- Blood >3 mo of age: 3-5 ml in an EDTA tube (purple top)
- Blood (newborn minimum requirement): 1 ml in an EDTA tube (purple top)
- Buccal swab*: kits available upon request
- Extracted DNA: 5 μg
*Buccal swabs may not yield an adequate amount of DNA for next generation sequencing. Please contact our laboratory before sending buccal swabs for this testing methodology.
- Next Generation Sequencing: 81407
- Targeted Deletion/Duplication Testing: 81228
- High Density SNP Microarray: 81229, 88230
PRICING: Contact the laboratory billing staff for current costs.
TURN-AROUND-TIME: Results are typically available in 2-6 weeks.
LINKS and REFERENCES: