Digeorge Syndrome, 22Q11.2 Deletion, FISH
Overview of Digeorge Syndrome, 22Q11.2 Deletion, FISH in Mumbai
What is the DiGeorge Syndrome 22q11.2 Deletion FISH test?
This test detects deletions in chromosome 22q11.2, which are associated with DiGeorge syndrome, a genetic disorder affecting multiple organ systems.
Why is this test performed?
It is used to diagnose DiGeorge syndrome in individuals with congenital heart defects, immune deficiencies, and developmental delays.
How is the test conducted?
A blood sample is analyzed using fluorescence in situ hybridization (FISH) to detect chromosome deletions.
What do abnormal results indicate?
A confirmed deletion in 22q11.2 suggests DiGeorge syndrome, which may require lifelong medical management.
What are the next steps if the test is positive?
Treatment plans may include cardiac care, immune system monitoring, and early developmental interventions.
Test included
- Specimen
- Clinical Indications
- Total Number Of Cells
- Digeorge Syndrome, 22q11.2 Deletion , Fish
- Normal
- Interpretation
Doctor information
Test code
6022F
CPT and Loinc codes
Department
- Cytogenetics
Turn around time
5 Working Days
Test run frequency
Every Day TIME - 07:00
Performing locations
1 labs across India
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Heparin Whole Blood | Green Vacutainer | 2 ML |
Specimen stability information
Heparin Whole Blood
Package price
₹6745
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