Test for Angelman Syndrome
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000007388.2
CAP
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2012-09-27
Last annual review date for the lab: 2022-10-27 Past due LinkOut
At a Glance
Diagnosis
Angelman syndrome
Genes (1): Help
SNRPN (15q11.2)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Genome Diagnostics Laboratory
View lab's website
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Lab contact: Help
Leslie Steele, MSc, Co-ordinator
leslie.steele@sickkids.ca
416-813-7200 ext 1
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 3
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Methylation analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Uniparental disomy study (UPD)
Other
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
NA

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sensitivity and Specificity = 99% for this assay.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
VUS:
Software used to interpret novel variations Help
NA

Laboratory's policy on reporting novel variations Help
NA
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.