Rett/Atypical Rett/Angelman/Angelman-like Syndromes Panel

INDICATION-SPECIFIC GEN PANEL TESTING

RettAngelman_Panel

 

 

Rett / Atypical Rett / Angelman / Angelman-like 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 FOR TESTING:

  • Developmental delay with or without regression
  • Mild to severe intellectual disability
  • Seizures
  • 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

High Density SNP Array

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 SNP Microarray Analysis and gene sequencing are normal, Deletion/Duplication Analysis is performed to identify partial or whole gene deletions and duplications.

Add Methylation 15 studies

  • Approximately 78% of individuals with Angelman syndrome are found to have methylation abnormalities of Chromosome 15. Methylation Analysis will identify abnormalities in additional patients who have methylation errors as a results of mechanisms NOT detected by SNP Microarray Analysis and is recommended for patients with a phenotype suggestive of Angelman syndrome.

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:

  • 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: 


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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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