Angelman Syndrome
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000028902.2
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2013-02-14
Last annual review date for the lab: 2023-09-05 LinkOut
At a Glance
Diagnosis
Angelman syndrome
Molecular Genetics - Uniparental disomy study (UPD): Methylation-specific PCR
Not provided
Not provided
Not provided
Ordering Information
Lab contact: Help
Ana Heller, MSc, Laboratory Contact
heller@gene.com.br
+55 31-3284-8000
Sergio Pena, PhD, MD, FRCP(C), Lab Director
sdpena@gmail.com
+55 3132848000
Contact Policy: Help
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Uniparental Disomy (UPD) Testing
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
No
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 *
Uniparental disomy study (UPD)
Methylation-specific PCR
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Test Comments: Help
Uniparental disomy study and loss of heterozygosity on chromosomal locus 15q11-q13
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
100% sensitive for methylation analysis
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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