Angelman Syndrome Methylation Analysis
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000005692.2
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2017-02-08
Last annual review date for the lab: 2023-06-14 LinkOut
At a Glance
Diagnosis
Angelman syndrome
Cytogenetics - FISH-metaphase: G-banding; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Genetics Laboratory - Department of Pathology
View lab's website
Lab contact: Help
Elizabeth Berry-Kravis, PhD, MD, Lab Director
Elizabeth_M_Berry-Kravis@rush.edu
312-942-6298
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 additional service: Help
Custom Prenatal Testing
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: 3
Method Category Help
Test method Help
Instrument *
FISH-metaphase
G-banding
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
detects ~78% of cases of AS caused by deletions, uniparental disomy (UPD), and imprinting defects
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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