Di-George Syndrome (FISH) Test
Short Name: DiGeorge FISH
Also known as: 22q11.2 deletion FISH, Velo-cardio-facial syndrome FISH, Shprintzen syndrome FISH
Di-George Syndrome (FISH) Test test available at DNA Labs India for ₹5,250. Uses Fluorescence in situ hybridization (FISH) on Peripheral blood / Amniotic fluid / Chorionic villi / Cord blood samples. Results in Reports are typically available within 1 week after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the DiGeorge Syndrome (FISH) test is to detect a microdeletion in the 22q11.2 region of chromosome 22, which is responsible for DiGeorge syndrome. This test aids in confirming a clinical diagnosis, guiding management decisions, and providing information for genetic counseling. It is also used for prenatal diagnosis in high-risk pregnancies and for family studies when a deletion is identified.
- Test Code
- 6087
- CPT Code
- 88271
- ICD Code
- Q93.81
- Price
- ₹5,250
- Sample Type
- Peripheral blood / Amniotic fluid / Chorionic villi / Cord blood
- Result Time
- Reports are typically available within 1 week after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Fluorescence in situ hybridization (FISH)
Sample Collection
No special preparation is required. A doctor's prescription is recommended. Inform the lab if you have had a blood transfusion or bone marrow transplant.
Method: Venipuncture or as per specimen type
Laboratory Analysis
For blood samples, a standard venipuncture is performed. For amniotic fluid or chorionic villi, the procedure is done by a specialist under ultrasound guidance.
Report Delivery
No specific aftercare is needed. For invasive prenatal procedures, follow your doctor's advice regarding rest and monitoring.
Timeline: Reports are typically available within 1 week after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the DiGeorge Syndrome (FISH) test is to detect a microdeletion in the 22q11.2 region of chromosome 22, which is responsible for DiGeorge syndrome. This test aids in confirming a clinical diagnosis, guiding management decisions, and providing information for genetic counseling. It is also used for prenatal diagnosis in high-risk pregnancies and for family studies when a deletion is identified.
How to Prepare
- Use sterile container for amniotic fluid/chorionic villi
- For blood, use sodium heparin vacutainer (2 ml)
- Transport at ambient temperature or with cool pack
- Do not freeze the sample
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis of 22q11.2 deletion is critical for managing cardiac, immune, and metabolic complications. FISH remains a reliable and cost-effective method."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Hemolyzed sample
- Incorrect container
- Sample not reaching lab within 48 hours
- Improper labeling
Understanding Your Results
Negative (no deletion)
No evidence of 22q11.2 deletion. Clinical suspicion may warrant other genetic tests if phenotype is strong.
Clinical recommendation: Consider chromosomal microarray or other gene panels if symptoms persist.
Positive (deletion detected)
Confirms diagnosis of DiGeorge syndrome. Genetic counseling and family testing recommended.
Clinical recommendation: Multidisciplinary management including cardiology, immunology, endocrinology, and developmental pediatrics.
Consult a doctor if you or your child have symptoms such as congenital heart defects, cleft palate, recurrent infections, low calcium levels, or developmental delays. Early diagnosis can significantly improve outcomes.
Limitations
- ⚠FISH only detects deletions in the specific probe region; atypical deletions may be missed
- ⚠Does not detect other genetic causes of similar phenotypes
- ⚠Results may be mosaic in rare cases
- ⚠Prenatal testing requires invasive procedures with associated risks
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●For amniocentesis/CVS: small risk of miscarriage or infection
- ●Emotional distress from receiving a genetic diagnosis
Interfering Factors
- ●Maternal cell contamination in prenatal samples
- ●Poor sample quality or insufficient cells
- ●Low mitotic index in blood samples
- ●Recent blood transfusion (for blood samples)
- ●Bone marrow transplantation
Compare With Similar Tests
| Test | Di-George Syndrome (FISH) | Chromosomal Microarray (CMA) | MLPA (Multiplex Ligation-dependent Probe Amplification) |
|---|---|---|---|
| Comparison | Di-George Syndrome (FISH) |
Frequently Asked Questions
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