NGS: Autism/ID/MCA Panel

INDICATION-SPECIFIC GENE PANEL TESTING

 Autism/ID/MApanel

 

Autism / Intellectual Disability / Multiple Anomalies Panel

 

 

 

 

GENES COVERED:

  • GeneList2  (Expanded on 8/15/2013 to include additional genes associated with autism, intellectual disability, and multiple anomalies.)
  • Contact our laboratory to obtain GeneList1; performed 10/1/2012 – 8/14/2013. 

PANEL OVERLAP:
This panel includes genes covered by other panels offered by our laborarory:

Depending on the clinical presentation of a patient, a more disease-specific gene panel may be most appropriate. For assistance determining which panel is most useful for your patient, please call our laboratory at 402-559-5070 and ask to speak with a laboratory genetic counselor.

 

DISORDERS INCLUDED IN THIS PANEL: 

   

INDICATIONS:

  • Autism spectrum disorders, with or without dysmorphic features
  • Developmental delay, learning disability or intellectual disability
  • Congenital heart defects
  • Other congenital anomalies
  • Birth defects
  • Seizure disorders
  • Structural brain anomalies
  • Abnormal growth parameters such as short stature, microcephaly, macrocephaly, failure to thrive, and overgrowth
  • Dysmorphic facial features
  • Vision/hearing problems
  • Low muscle tone
  • Certain dermatologic findings

OUR LABORATORY'S RECOMMENDED TESTING STRATEGY 

Comprehensive Autism / Intellectual Disability / Multiple Anomalies Testing

SNP Microarray Analysis and Next Generation Sequencing Panel with reflex to Deletion/Duplication Analysis

High Density SNP Array

  • Between 10% and 20% of individuals with developmental disabilities, autism, or congenital anomalies have copy number changes, microdeletions, or microduplications, detected by microarray analysis.* The American College of Medical Genetics recommends microarray as a first tier test for individuals with these indications due to its increased diagnostic yield compared to traditional chromosome analysis.

Next Generation Sequencing

  • Single gene disorders cause developmental disabilities, autism, or congenital anomalies in an additional number of individuals.  This gene test panel covers genes known to be associated with these indications.

Targeted Deletion/Duplication Testing

  • If SNP Microarray Analysis and gene sequencing are normal, Deletion/Duplication Analysis is performed to identify partial or whole gene deletions and duplications, another potential cause of developmental disabilities, autism, or congenital anomalies. Deletion/Duplication Analysis only evaluates the genes included in this panel.

*Reference Source: ARTICLE: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test 

Add Methylation 15 studies

  • For patients with Prader-Willi or Angelman syndrome, Methylation Analysis will identify abnormalities in additional patients who have methylation errors as a result of mechanisms not detected by SNP Microarray Analysis. Methylation Analysis is recommended for patients with phenotypes suggestive of these disorders.

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 EDTA tube (purple top)
  • Blood (newborn minimum requirement): 1 ml in 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:

  • High Density SNP Microarray: 81229, 88230
  • Next Generation Sequencing (Expanded GeneList2 Panel)
    • For patients who have not previously been tested on GeneList1: 81407(x2)
    • For patients who have previously been tested on GeneList1: 81407
  • Targeted Deletion/Duplication Testing: 81228
  • Methylation Analysis (of chromosome 15): 81331

 

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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