Prader-Willi Syndrome
GTR Test Accession: Help GTR000500605.6
CAP
INHERITED DISEASEDYSMORPHOLOGYENDOCRINOLOGY ... View more
Last updated in GTR: 2020-08-10
Last annual review date for the lab: 2023-07-28 LinkOut
At a Glance
Diagnosis
Prader-Willi syndrome
Molecular Genetics - Deletion/duplication analysis: MS-MLPA; ...
Not provided
Deletion and methylation analysis of the critical region in chromosome …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Molecular Genetics and Cytogenetics, Clinical Laboratory Service
View lab's website
Test short name: Help
PWS
Specimen Source: Help
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:
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 has a sensitivity over 98% in Prader-Willi 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:
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 has a sensitivity over 98% in Prader-Willi Syndrome. For validation, 17 CAP samples and 2 patient samples 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:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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