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Angelman Syndrome
Clinical Genetic Test
Help
offered by
Molecular Genetics Laboratory - Diagnostics Genetics
View lab's test page
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GTR Test Accession: Help GTR000017517.5
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2021-04-07
View version history
Last annual review date for the lab: 2022-11-28 Past due LinkOut
At a Glance
Test purpose: Help
Mutation Confirmation; Pre-symptomatic; Diagnosis
Conditions (1): Help
Angelman syndrome
Chromosomal regions/ Mitochondria (1): Help
15q11.2-q13
Genes (1): Help
UBE3A (15q11.2)
Methods (2): Help
Molecular Genetics - Methylation analysis: Methylation-Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
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
dgen@adhb.govt.nz
+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:
Test Order Code, How to Order, Test strategy
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
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
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
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
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.