Test name: Noonan syndrome/RASopathy Disorders Panel - Next Generation Sequencing
Disorders Included in This Panel:
- Noonan GeneReviews™
- LEOPARD GeneReviews™
- Costello GeneReviews™
- Cardiofaciocutaneous (CFC) GeneReviews™
- Autoimmune lymphoproliferative GeneReviews™
- 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
The genes on this panel are included on another NGS panel offered by our laboratory:
For assistance determining which Next Gen panel is most useful for your patient, please call our laboratory at 402-559-5070 and ask to speak with a laboratory genetic counselor.
- Next generation sequencing (NGS), or “Next Gen” as it is frequently called, is a technology that analyzes multiple genes at once. It is a cost-effective method of testing many potentially causative genes simultaneously rather than ordering separate Sanger sequencing one gene at a time.
- Next Gen is most helpful in cases where a patient has findings suspicious of multiple potential genetic causes, generally the result of either clinical ambiguity due to marked phenotypic overlap between various syndromes or numerous genetic causes for a single disorder.
- Our systematic data analysis references the most current versions of primary genomic databases, which translates to better mutation classification (e.g., benign vs. pathogenic).
- Pathogenic changes are confirmed by traditional Sanger sequencing or by another appropriate testing method.
- Even after careful analysis, some variants cannot yet be classified as benign or pathogenic and, therefore, are variants of uncertain significance.
- Next Gen will identify sequence variation, but it will not identify large deletions or duplications. A complimentary test such as whole genome microarray analysis or gene-specific deletion/duplication analysis would be needed to identify genetic dosage abnormalities.
- Next Gen is NOT whole exome sequencing or whole genome sequencing. The test will only identify mutations in the genes included on the panel ordered.
- Phenotypic features of Noonan syndrome/RASopathy Disorders overlap with the features of multiple microdeletion and microduplication syndromes. High Density SNP Microarraycan be ordered simultaneously or in a tiered fashion to assess for these copy number changes.
- Similarly, due to the phenotypic overlap between various syndromes, the NGS Autism/ID/MA Panel, which covers all the genes in the Rett/Atypical Rett/Angelman Syndromes Next Gen Panel, as well as additional genes of clinical significance, may be appropriate for some patients.
For questions regarding the usefulness of complementary testing for your patient, please call our laboratory at 402-559-5070 and ask to speak with a laboratory genetic counselor.
Specimen requirements: Test kits are available – please contact the laboratory
- Blood: 3-5 ml in a EDTA tube (purple top)
CPT codes: 81404 (x2), 81405
Pricing: Contact the laboratory billing staff for current costs
Required forms: Postnatal Test Request Form
Turn-around time: 6-10 weeks
Step-by-step ordering instructions:
1) Access the postnatal test request form on the Human Genetics Laboratory website.
2) Complete the 2-page form. Under TEST SELECTION, mark the box next to the Next Generation Sequencing Noonan Syndrome/RASopathy Disorders Panel.
3) When ordering multiple tests, such as the High Density SNP Microarray: Under SPECIAL TEST INSTRUCTIONS, indicate the order in which you would like the tests performed. For example, “Please complete microarray first. If negative, reflex to Next Gen Sequencing.”
4) Provide any clinical information that may be important for interpretation.
5) Obtain insurance pre-authorization when necessary; forms available.
6) Following HGL shipping & handling requirements, send completed test request form and specimen at room temperature within 24 hours of collection.