INDICATION-SPECIFIC GEN PANEL TESTING
Rett / Atypical Rett / Angelman / Angelman-like 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 Rett and Angelman syndromes. Contact our laboratory to obtain GeneList1; performed 10/1/2012 – 8/14/2013.
PANEL OVERLAP: This panel includes an indication-specific subset of genes from another panel offered by our laboratory.
|DISORDERS INCLUDED IN THIS PANEL:|
INDICATIONS FOR TESTING:
- Developmental delay with or without regression
- Mild to severe intellectual disability
- Lack of speech/apraxia
- Low muscle tone
- Ataxic gait
- Dysmorphic or normal facial features
- Stereotypic behaviors, such as hand-wringing, hand-flapping, or inappropriate laughter
OUR LABORATORY'S RECOMMENDED TESTING STRATEGY
Comprehensive Testing: Rett / Atypical Rett / Angelman / Angelman-like Syndromes
SNP Microarray Analysis and Next Generation Sequencing Panel with reflex to Deletion/Duplication Analysis
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: 81407
- Targeted Deletion/Duplication Testing: 81228
PRICING: Contact the laboratory billing staff for current costs.
TURN-AROUND-TIME: Results are typically available in 2-6 weeks.
LINKS and REFERENCES: