Angelman Syndrome
GTR Test Accession: Help GTR000017517.5
Last updated in GTR: 2021-04-07
Last annual review date for the lab: 2022-11-28 Past due LinkOut
At a Glance
Mutation Confirmation; Pre-symptomatic; Diagnosis
Angelman syndrome
Genes (1): Help
UBE3A (15q11.2)
Molecular Genetics - Methylation analysis: Methylation-Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Laboratory - Diagnostics Genetics
View lab's website
View lab's test page
Manufacturer's name: Help
MS-MLPA kit ME028-C1
Specimen Source: Help
Who can order: Help
  • Health Care Provider
  • Genetic Counselor
Lab contact: Help
Duty Scientist Molecular Genetics, LabPlus, , Staff
+64-9-3074949 ext 22014
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 development: Help
Manufactured (research use only; not FDA-reviewed)
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
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 2
Method Category Help
Test method Help
Methylation analysis
Methylation-Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500 capillary sequencing instrument
Clinical Information
Test purpose: Help
Mutation Confirmation; Pre-symptomatic; Diagnosis
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analysis was performed using Coffalyser.Net. The sensitivity of this assay is estimated to be 99% for Prader-Willi syndrome and 80% for Angelman syndrome. This assay may detect Prader-Willi/Angelman syndrome mosaicism when >50% affected cells are present in the sample.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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