Noonan Syndrome / RASopathy Disorders Panel

INDICATION-SPECIFIC GENE PANEL TESTING

 NoonanRASopathyPanel

 

Noonan Syndrome / RASopathy Disorders Panel

 

DETECTION ABILITIES:

  • 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:

Indications:

  • 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

Next Generation Sequencing

  • Next generation sequencing (NGS) analyzes multiple genes at once, making this a cost-effective method of testing genes known to be associated with these indications rather than Sanger sequencing one gene at a time.

Targeted Deletion/Duplication Testing

  • If gene sequencing is normal, deletion/duplication is performed to identify partial or whole gene deletions and duplications, another potential cause of developmental disabilities, autism, or congenital anomalies.

High Density SNP Array

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)


SPECIMEN COLLECTION & SHIPPING

SPECIMEN REQUIREMENTS:  

  • 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.


CPT CODES:

  • 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: 


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contact us
Phone:  402-559-5070 
1-800-656-3937 x95070
Fax:  402-559-7248
humangenetics@unmc.edu

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