Schaaf-yang syndrome testing (MAGEL2)
GTR Test Accession: Help GTR000509731.3
CAP
INHERITED DISEASEDYSMORPHOLOGYENDOCRINOLOGY ... View more
Last updated in GTR: 2020-08-13
Last annual review date for the lab: 2023-07-18 LinkOut
At a Glance
Diagnosis; Monitoring; Mutation Confirmation; ...
Schaaf-Yang syndrome; Prader-Willi syndrome
Genes (1): Help
MAGEL2 (15q11.2)
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
The target population for this test is patients suspecting of …
De novo truncating mutations in the paternally inherited copy of …
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Saliva
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
CPT codes: Help
**AMA CPT codes notice
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.
How to Order: Help
All samples should be shipped via overnight delivery at room temperature.
No weekend or holiday deliveries.
Label each specimen with the patient’s name, date of birth and date sample collected.
Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
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: 2
Condition/Phenotype Identifier
Test Targets
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 *
Deletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Monitoring; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Clinical validity: Help
De novo truncating mutations in the paternally inherited copy of MAGEL2 have been associated with classic Prader Willi syndrome (PWS) or Prader Willi-like features The proportion of PWS associated with MAGEL2 mutations is unknown, but is predicted to be low.
View citations (1)
  • Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013;45(11):1405-8. doi:10.1038/ng.2776. Epub 2013 Sep 29. PMID: 24076603.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism. Nat Genet. 2013;45(11):1405-8. doi:10.1038/ng.2776. Epub 2013 Sep 29. PMID: 24076603.

Target population: Help
The target population for this test is patients suspecting of having a diagnosis of Prader Willi syndrome, who have normal methylation studies.
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Variants are identified and evaluated using a custom collection of bioinformatic tools and comprehensively interpreted by our team of directors and genetic counselors.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Research:
Is research allowed on the sample after clinical testing is complete? Help
http://dnatesting.uchicago.edu/research-consent-form
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity 99-100% Accuracy 100% Precision 100%
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
VUS:
Software used to interpret novel variations Help
A custom collection of bioinformatics tools.

Laboratory's policy on reporting novel variations Help
All novel and/or potentially pathogenic variants are confirmed by Sanger sequencing
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.