Micro-deletion study for Prader-Willi syndrome
GTR Test Accession: Help GTR000556611.1
INHERITED DISEASEDYSMORPHOLOGYENDOCRINOLOGY ... View more
Last updated in GTR: 2017-08-17
Last annual review date for the lab: 2023-10-05 LinkOut
At a Glance
Diagnosis
Prader-Willi syndrome
Cytogenetics - Fluorescence in situ hybridization (FISH): Fluorescence in situ hybridization (FISH)
Universal
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
Micro-deletion study for PWS
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Product of conception (POC)
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Physician
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL
Test service: Help
Genetic counseling
Result interpretation
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
Based on applicable state law
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
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: 1
Method Category Help
Test method Help
Instrument *
Fluorescence in situ hybridization (FISH)
Fluorescence in situ hybridization (FISH)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis

Target population: Help
Universal
View citations (1)
  • Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS). Tharapel AT, et al. Am J Med Genet. 2002;107(2):119-22. doi:10.1002/ajmg.10106. PMID: 11807885.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The Fluorescence in situ hybridization is greater than 99% sensitive and specific for micro-deletion study.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

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