Angelman Syndrome
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000005900.3
Last updated in GTR: 2024-03-26
Last annual review date for the lab: 2024-03-26 LinkOut
At a Glance
Angelman syndrome
Genes (1): Help
SNRPN (15q11.2)
Molecular Genetics - Methylation analysis: Methylation-specific PCR
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Genetics Laboratory
View lab's website
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Licensed Physician
  • Nurse Practitioner
Test Order Code: Help
Lab contact: Help
Leslie Willis, BS, MB(ASCP), Genetics Manager
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
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
Total methods: 1
Method Category Help
Test method Help
Instrument *
Methylation analysis
Methylation-specific PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Sample reports:
Sample Negative Report Help
Sample Negative Report

Sample Positive Report Help
Sample Positive Report
Recommended fields not provided:
Technical Information
Test Comments: Help
Testing to detect allelic methylation differences of the SNRPN gene.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity approach 100%. Precision 100% within tech, between tech, within run, between run. Clinical sensitivity 78%. 28 sample validation, diagnostic testing since 2002.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

CAP Testing Information Help
CAP/ACMG Molecular Genetics Series; Prader-Willi/Angelman syndrome; MGL1
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.