Angelman Syndrome Testing
GTR Test Accession: Help GTR000006790.4
CAP
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2019-10-18
Last annual review date for the lab: 2021-10-21 Past due LinkOut
At a Glance
Diagnosis
Angelman syndrome
Cytogenetics - FISH-metaphase: Fluorescence in situ hybridization (FISH); ...
Not provided
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Ordering Information
Offered by: Help
Center for Human Genetics Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Peripheral (whole) blood
  • Product of conception (POC)
  • View specimen requirements
Lab contact: Help
Shashirekha Shetty, PhD, ABMG, FAAOS, DABMG, Lab Director
Shashirekha.Shetty@uhhospitals.org
216-983-1121
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
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:
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: 3
Method Category Help
Test method Help
Instrument *
FISH-metaphase
Fluorescence in situ hybridization (FISH)
Methylation analysis
Methylation-specific PCR
Uniparental disomy study (UPD)
Methylation-specific PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
100% Detection
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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