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.

Also known asDi-george Syndrome22q11.2 Deletion Di-george Syndrome22q11.2 Deletion

Available via

Home Collection, Lab Visit

Contains

6 parameters

Earliest reports in

6 Working Days

Test details

DIGEORGE SYNDROME, 22Q11.2 DELETION , FISH Test in Bengaluru Overview

Preparations

No special preparations needed

Test included
DIGEORGE SYNDROME, 22Q11.2 DELETION , FISH includes 6 parameters

  • Specimen
  • Clinical Indications
  • Total Number Of Cells
  • Digeorge Syndrome, 22q11.2 Deletion , Fish
  • Normal
  • Interpretation
Frequently Asked Questions

 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
SpecimenVacutainerVolume
Heparin Whole BloodGreen Vacutainer2 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

DIGEORGE SYNDROME, 22Q11.2 DELETION , FISH

6300