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Angelman Syndrome
Clinical Genetic Test
Help
offered by
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
GTR Test Accession: Help GTR000500606.7
CAP
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2020-08-10
View version history
Last annual review date for the lab: 2025-07-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Angelman syndrome
Chromosomal regions/ Mitochondria (1): Help
15q11-q13
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: MS-MLPA; ...
Target population: Help
Not provided
Clinical validity: Help
Deletion and methylation analysis of the critical region in chromosome …
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
AS
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Licensed Physician
Test Order Code: Help
2415
Lab contact: Help
Marcela Lagos, MD, Lab Director
mlagos@med.puc.cl
+56 223548515
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
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:
How to Order, Test strategy, Test development
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
MS-MLPA
Methylation analysis
MS-MLPA
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
Deletion and methylation analysis of the critical region in chromosome 15 accounts for approx. 75% of alterations in Angelman syndrome.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities. Bittel DC, et al. Genet Test. 2007;11(4):467-75. doi:10.1089/gte.2007.0061. PMID: 18294067.

Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer.
Recommended fields not provided:
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
Deletion and methylation analysis of the critical region in chromosome 15 accounts for approx. 75% of alterations in Angelman syndrome. For validation, 17 CAP samples and 2 patients with a cytogenetic report were analyzed.
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
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
Not provided
Additional Information

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