INDICATION-SPECIFIC GENE PANEL TESTING
Autism / Intellectual Disability / Multiple Anomalies Panel
- This panel includes both full sequencing and high resolution deletion/duplication analysis.
- Detection ability 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
- The gene list for this panel was 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 laboratory.
- Rett / Atypical Rett / Angelman / Angelman-like Syndromes Panel, and
- Noonan / RASopathy Disorders Panel
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 FOR TESTING:
- 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 Testing: Autism / Intellectual Disability / Multiple Anomalies
SNP Microarray Analysis and Next Generation Sequencing Panel with reflex to Deletion/Duplication Analysis
*Reference Source: ARTICLE: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test
Add Methylation 15 studies
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.
- 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:
- ARTICLE: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies. Am J Hum Gen 2010.