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FISH Analysis, Recurrent Microdeletion & Microduplication Syndromes
Clinical Genetic Test
Help
offered by
Institute for Genomic Medicine (IGM) Clinical Laboratory
View lab's test page
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GTR Test Accession: Help GTR000593808.3
CAP
IMMUNOLOGYCARDIOVASCULARDYSMORPHOLOGY ... View more
Last updated in GTR: 2021-11-16
View version history
Last annual review date for the lab: 2023-07-14 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Risk Assessment
Conditions (2): Help
22q11.2 deletion syndrome; DiGeorge syndrome
Chromosomal regions/ Mitochondria (1): Help
22q11.2
Methods (2): Help
Cytogenetics - FISH-interphase: Fluorescence in situ hybridization (FISH); ...
Target population: Help
Individuals suspected of having a specific recurrent microdeletion syndrome, or …
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Institute for Genomic Medicine (IGM) Clinical Laboratory
View lab's website
View lab's test page
Test short name: Help
Microdeletion FISH
Specimen Source: Help
  • Amniotic fluid
  • Cell culture
  • Cord blood
  • Cystic hygroma fluid
  • Fetal blood
  • 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
Test Order Code: Help
FISHON
View other test codes
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
Samples can be accepted 7 days a week (Monday - Sunday). All samples must be labeled with minimum of two patient identifying information (e.g. Patient Name and Date of Birth). Please submit all samples with a completed test requisition form.
Order URL
Test service: Help
Confirmation of research findings
Informed consent required: Help
No
Test strategy: Help
Reflex to microarray analysis available
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test development
Conditions Help
Total conditions: 2
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-interphase
Fluorescence in situ hybridization (FISH)
FISH-metaphase
Fluorescence in situ hybridization (FISH)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Risk Assessment
Target population: Help
Individuals suspected of having a specific recurrent microdeletion syndrome, or family members of proband with known microdeletion syndrome.
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:
Clinical validity, Clinical utility, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Platform:
None/not applicable
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Locus-specific FISH probe will be used. Analysis of 10 metaphase and 40 interphase cells will be performed.
Assay limitations: Help
Deletion/duplication size of less than 200 kb may not be detected.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
College of American Pathologists, CAP
Recommended fields not provided:
Test Confirmation, Citations to support 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
Category: Not Applicable
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.