Angelman syndrome
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000032601.4
CAP
INHERITED DISEASENERVOUS SYSTEMSYNDROMIC DISEASE ... View more
Last updated in GTR: 2022-01-19
Last annual review date for the lab: 2023-01-20 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Angelman syndrome
Cytogenetics - FISH-metaphase: FISH-metaphase
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Cytogenetics Laboratory
View lab's website
Manufacturer's name: Help
FISH
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Cord blood
  • Fibroblasts
  • Fresh tissue
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Skin
  • View specimen requirements
Who can order: Help
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
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 service: Help
FISH
Test development: Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required: Help
Yes
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 *
FISH-metaphase
FISH-metaphase
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
FISH is 97% sensitive for detecting the target sequence.
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

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.