Classic view of this page
FISH, 22q11.2 Deletion Syndrome
Clinical Genetic Test
Help
offered by
IU Genetic Testing Laboratories
View lab's test page
LinkOut
GTR Test Accession: Help GTR000013538.8
CAP
IMMUNOLOGYINHERITED DISEASECARDIOVASCULAR ... View more
Last updated in GTR: 2023-01-09
View version history
Last annual review date for the lab: 2024-01-10 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (3): Help
DiGeorge syndrome; Chromosome 22q11.2 deletion syndrome, distal; Velocardiofacial syndrome
Chromosomal regions/ Mitochondria (1): Help
22q11.2
Methods (2): Help
Cytogenetics - FISH-metaphase: Fluorescence in situ hybridization (FISH); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
IU Genetic Testing Laboratories
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Chorionic villi
  • Cord blood
  • Cystic hygroma fluid
  • Fibroblasts
  • Fresh tissue
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Skin
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Nurse Practitioner
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
Order URL
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:
Test Order Code, Lab contact for this test, Test strategy, Test development
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
FISH-metaphase
Fluorescence in situ hybridization (FISH)
Detection of homozygosity
Microarray
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
Affymetrix CytoScan HD Array
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity greater than 99%
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:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
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.