FISH - SRY Gene Test
Short Name: FISH SRY Gene
Also known as: FISH for SRY Gene, SRY Gene Deletion Test, Sex-Determining Region Y Gene Test, Fluorescence In Situ Hybridization SRY, SRY Probe Analysis
FISH - SRY Gene Test test available at DNA Labs India for ₹7,371. Uses Fluorescence In Situ Hybridization (FISH) on Whole Blood samples. Results in Results are typically available within 4 working days from the date of sample receipt at the laboratory. Reports can be accessed via the DNA Labs India online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of the FISH SRY Gene Test is to detect deletions or abnormalities of the SRY gene at Yp11.3, which may be associated with gonadal dysgenesis, 46,XY sex reversal, and other disorders of sex development. It is used to confirm the presence of Y-chromosome material in individuals with ambiguous genitalia, unexplained sexual development anomalies, or a family history of sex-linked genetic disorders. The test serves as a rapid, targeted complement to conventional karyotyping in the diagnostic workup of sex chromosome anomalies and helps guide clinical management and genetic counseling.
- Test Code
- 609
- CPT Code
- 88271
- ICD Code
- Q55.9,Q96.9,Q98.0-Q98.9
- Price
- ₹7,371
- Sample Type
- Whole Blood
- Result Time
- Results are typically available within 4 working days from the date of sample receipt at the laboratory. Reports can be accessed via the DNA Labs India online portal, email, or WhatsApp.
- Fasting Required
- No
- Method
- Fluorescence In Situ Hybridization (FISH)
Sample Collection
No special preparation such as fasting is required. Ensure that the Chromosome and FISH Analysis Requisition Form (Form 17) is duly filled and accompanies the sample. Inform the phlebotomist about any recent blood transfusions. Schedule sample collection with DNA Labs India either at a walk-in center or via free home collection service.
Method: Venipuncture
Laboratory Analysis
A 5 mL venous blood sample (minimum 3 mL) will be drawn from a vein in the arm using standard venipuncture technique. The blood will be collected into a green top Vacutainer tube containing sodium heparin as the anticoagulant. The tube will be gently inverted 8 to 10 times to ensure proper mixing with the anticoagulant. Proper patient identification and labeling will be verified.
Report Delivery
The sample will be maintained and shipped at room temperature (18 to 22 degrees Celsius). Do not freeze the sample. Avoid exposing it to extreme temperatures. The sample should reach the laboratory within 48 hours of collection for optimal results. Results will be available within 4 working days and can be accessed through the online portal, email, or WhatsApp.
Timeline: Results are typically available within 4 working days from the date of sample receipt at the laboratory. Reports can be accessed via the DNA Labs India online portal, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the FISH SRY Gene Test is to detect deletions or abnormalities of the SRY gene at Yp11.3, which may be associated with gonadal dysgenesis, 46,XY sex reversal, and other disorders of sex development. It is used to confirm the presence of Y-chromosome material in individuals with ambiguous genitalia, unexplained sexual development anomalies, or a family history of sex-linked genetic disorders. The test serves as a rapid, targeted complement to conventional karyotyping in the diagnostic workup of sex chromosome anomalies and helps guide clinical management and genetic counseling.
How to Prepare
- Collect 5 mL (minimum 3 mL) of whole blood by venipuncture
- Use only 1 Green Top (Sodium Heparin) tube
- Gently invert the tube 8 to 10 times after collection
- Ship at 18 to 22 degrees Celsius. DO NOT FREEZE
- Submit a duly filled Chromosome and FISH Analysis Requisition Form (Form 17)
- Ensure sample reaches the lab within 48 hours of collection
- Label the tube clearly with patient name, date of birth, and sample date
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"The FISH SRY Gene Test is a valuable diagnostic tool when evaluating cases of ambiguous genitalia, suspected disorders of sex development (DSD), or known family history of sex-linked genetic conditions. It provides rapid and reliable detection of SRY gene deletions at the Yp11.3 locus, enabling early clinical decision-making and appropriate genetic counseling for families. I recommend this test for any patient presenting with clinical features suggestive of gonadal dysgenesis, 46,XY sex reversal, or when there is a need to confirm the presence of Y-chromosome material. It is a safe, non-invasive alternative that complements conventional karyotyping in the workup of sex chromosome anomalies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in EDTA or any anticoagulant other than sodium heparin
- Frozen or hemolyzed sample
- Sample volume below the minimum of 3 mL
- Missing or incomplete Chromosome and FISH Analysis Requisition Form (Form 17)
- Sample received more than 48 hours after collection
- Unlabeled or mislabeled sample tube
Understanding Your Results
Normal result. The SRY gene is intact at Yp11.3. Male sex determination pathway is expected to be functional. Correlate with clinical presentation and karyotype.
Supports normal male sex-determining gene function. If clinical anomalies exist, other genetic or hormonal causes should be investigated.
Abnormal result. SRY gene deletion at Yp11.3 detected. Associated with 46,XY gonadal dysgenesis, 46,XY sex reversal, or related disorders of sex development.
High clinical significance. Recommend full karyotyping, hormonal workup (AMH, testosterone, FSH, LH), pelvic imaging, and genetic counseling for the patient and family.
Inconclusive. Possible partial deletion, translocation, or technical artifact. Repeat FISH or confirmatory testing is recommended.
Correlate with clinical findings. Consider molecular sequencing of the SRY gene and comprehensive chromosomal microarray analysis.
Consistent with a normal female chromosomal complement. SRY gene absence is expected. If clinical features suggest otherwise, investigate for SRY translocation to X chromosome or autosomes.
Normal in typical female presentation. In cases of virilization or ambiguous genitalia, further molecular studies to detect cryptic SRY translocations may be warranted.
Consult your clinical geneticist or obstetrician-gynecologist if the test reveals absence of the SRY gene, ambiguous or inconclusive results, or if there are clinical features such as ambiguous genitalia, failure of pubertal development, primary amenorrhea in an XY individual, or a family history of disorders of sex development. Early consultation is important for appropriate medical management, surgical planning if indicated, hormonal therapy, and genetic counseling regarding recurrence risk and family planning options.
Limitations
- ⚠This test detects SRY gene deletions at Yp11.3 and does not evaluate the entire Y chromosome or other sex-determining genes
- ⚠Point mutations or small structural rearrangements within the SRY gene may not be detected by FISH and may require sequencing
- ⚠Mosaicism at low levels may not be reliably detected on interphase FISH
- ⚠Results should be interpreted in conjunction with clinical findings, karyotyping, and hormonal evaluation
- ⚠FISH does not replace comprehensive chromosomal microarray or whole-genome analysis for broader genetic evaluation
- ⚠This test is not intended for sex selection purposes and must only be used for legitimate medical indications in compliance with the PC-PNDT Act
Risks & Considerations
- ●Minimal risk associated with blood draw: slight pain or bruising at the venipuncture site
- ●Rarely, slight infection or hematoma at the needle insertion site
- ●No risk of miscarriage (unlike invasive prenatal procedures such as amniocentesis or CVS)
- ●Emotional or psychological impact of results; genetic counseling is recommended
Interfering Factors
- ●Sample collected in incorrect anticoagulant (must be sodium heparin green top tube)
- ●Sample stored at frozen temperatures or exposed to extreme heat
- ●Insufficient sample volume (less than 3 mL minimum)
- ●Contaminated or hemolyzed blood sample
- ●Failure to submit the duly filled Chromosome and FISH Analysis Requisition Form (Form 17)
- ●Recent blood transfusion may affect interphase FISH results
Compare With Similar Tests
| Test | FISH - SRY Gene Test | ||||
|---|---|---|---|---|---|
| Comparison | FISH - SRY Gene Test |
Frequently Asked Questions
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