DIGEORGE SYNDROME, 22Q11.2 DELETION , FISH
This test detects a 22q11.2 chromosomal deletion associated with DiGeorge syndrome, which causes developmental delays, heart defects, and immune system problems. It is used for diagnosing congenital disorders and providing information for genetic counseling. Early diagnosis can improve management and care strategies.
DIGEORGE SYNDROME, 22Q11.2 DELETION , FISH Test in Bengaluru Overview
No special preparations needed
- Specimen
- Clinical Indications
- Total Number Of Cells
- Digeorge Syndrome, 22q11.2 Deletion , Fish
- Normal
- Interpretation
This test detects deletions in chromosome 22q11.2, which are associated with DiGeorge syndrome, a genetic disorder affecting multiple organ systems.
It is used to diagnose DiGeorge syndrome in individuals with congenital heart defects, immune deficiencies, and developmental delays.
A blood sample is analyzed using fluorescence in situ hybridization (FISH) to detect chromosome deletions.
A confirmed deletion in 22q11.2 suggests DiGeorge syndrome, which may require lifelong medical management.
Treatment plans may include cardiac care, immune system monitoring, and early developmental interventions.
Test code
6022F
Specimen vol. and vacutainer information
| Specimen | Vacutainer | Volume |
|---|---|---|
| Heparin Whole Blood | Green Vacutainer | 2 ML |
Specimen stability information
Heparin Whole Blood
Specimen rejection criteria
Test run frequency
Every Day TIME - 07:00
Turn around time
6 Working Days
Performing locations
Department
- Cytogenetics
CPT and Loinc codes
Package price
₹6300
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₹6300