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Prader Willi-Angelman Syndrome Methylation-Specific PCR Analysis
Clinical Genetic Test
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offered by
Molecular Diagnostics Laboratory
View lab's test page
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GTR Test Accession: Help GTR000253215.1
CAP
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Registered in GTR: 2013-06-03
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Last annual review date for the lab: 2024-03-11 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (2): Help
Angelman syndrome; Prader-Willi syndrome
Genes (1): Help
SNRPN (15q11.2)
Methods (1): Help
Molecular Genetics - Methylation analysis: Methylation-specific PCR
Target population: Help
Testing should be considered in a child with a clinical …
Clinical validity: Help
This test will identify large disease-causing deletions, uniparental disomy or …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Diagnostics Laboratory
View lab's test page
Test short name: Help
PWAS-PCR
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
PWAS PCR
View other test codes
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
Peripheral blood (3 mL) in EDTA (lavender top) tube. Transport at room temperature. Please label with patient name, date of birth, date and time of collection of sample. Alteratively, a buccal swab can be submitted for testing with same labeling requirements. Please submit sample with a completed Molecular Diagnostics requisition …
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Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test strategy
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: 1
Method Category Help
Test method Help
Instrument
Methylation analysis
Methylation-specific PCR
Applied Biosystems 3130XL
Clinical Information
Test purpose: Help
Diagnosis
Clinical validity: Help
This test will identify large disease-causing deletions, uniparental disomy or methylation patterning defects in the Prader-Willi / Angelman critical region. Other cause of PWS or AS, including small deletions within the disease critical region, point mutations within the UBE3A gene or mechanisms other than those cited above, will not be … View more
Target population: Help
Testing should be considered in a child with a clinical diagnosis or suspicion of PWS or AS
View citations (2)
  • Buiting K, Gross S, Lich C, Gillessen-Kaesbach G, el-Maarri O, Horsthemke B. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet. 2003;72(3):571-7. doi:10.1086/367926. Epub 2003 Jan 23. PMID: 12545427.
  • Cassidy and Schwartz S. Prader-Willi Syndrome. Editors In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Source GeneReviews (www.genetests.org) Seattle (WA): University of Washington, Seattle; 1993- [updated 2009 Sep 03].
Recommended fields not provided:
Clinical utility, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
None/not applicable
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
I. Analytical specificity - The primers are specific to the SNRPN allele. II. Analytical sensitivity – 99% of non-methylated cytosine residues are converted to uracil, with >99% protection of methylated cytosines. Sensitivity is 500pg of DNA. III. Assay accuracy- 100% concordance with results obtained using current EZ DNA Methylation KitTM. … View more
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
Category: FDA exercises enforcement discretion
Additional Information

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