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FISH for Miller Dieker Syndrome

Omics test Model
Test Code FAF007
Test Summary Fluorescence in situ hybridization (FISH) is performed for aneuploidy detection of chromosome 21
Turn Around Time 3 days
Acceptable Sample Types Amniotic Fluid
NY Approved No
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
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Test Code: FAF007
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Test Description

FISH - Rapid detection of aneuploidy involving chromosome 21. Assay offered in conjunction with chromosome study.

Indications for Testing

FISH - The FISH analysis does not detect structural chromosome abnormalities, mosaicism, and other numerical chromosome abnormalities (excluding 13, 18, and 21). The American College of Medical Genetics recommends that irreversible therapeutic action should not be initiated on the basis of FISH results alone.

Condition Description

FISH

  • Screening result suggests aneuploidy
  • Advanced maternal age
  • One major or at least two minor fetal structural defects found on ultrasound
  • Previous fetus or child with aneuploidy
  • Parent of this pregnancy has a structural chromosome abnormality (e.g.,translocation, inversion) involving chromosome 21

Test Methods and Limitations

FISH - Fluorescence in situ hybridization (FISH) Fluorescence Microscopy

Detailed Sample Requirements

Amniotic Fluid
Test Details Page
Special Sample Instructions Please contact a Revvity Omics Laboratory genetic counselor for information on prenatal test requests and acceptable sample types.