FISH - Trisomy 13 / Patau Syndrome Test
Short Name: FISH Trisomy 13
Also known as: Trisomy 13 FISH, Patau Syndrome FISH, FISH Chromosome 13
FISH - Trisomy 13 / Patau Syndrome Test test available at DNA Labs India for ₹6,000. Uses Fluorescence In Situ Hybridization (FISH) on Amniotic fluid, Chorionic villi, Peripheral blood samples. Results in Reports are typically available within 1 week (7 days) from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of the FISH Trisomy 13 test is to confirm or rule out the presence of an extra chromosome 13, which is diagnostic of Patau syndrome. It is used prenatally to evaluate fetuses at increased risk based on maternal age, abnormal ultrasound findings, or positive screening tests. Postnatally, it helps in diagnosing infants with clinical features suggestive of trisomy 13. The rapid turnaround time of FISH allows timely genetic counseling and management planning.
- Test Code
- 6277
- CPT Code
- 88271
- ICD Code
- Q91.7
- Price
- ₹6,000
- Sample Type
- Amniotic fluid, Chorionic villi, Peripheral blood
- Result Time
- Reports are typically available within 1 week (7 days) from sample receipt.
- Fasting Required
- No
- Method
- Fluorescence In Situ Hybridization (FISH)
Sample Collection
Duly filled Chromosome & FISH analysis Requisition Form (Form 17) and Prenatal Genetic Testing Consent Form (Form 18) are mandatory. No fasting required. Inform your doctor about any medications or supplements.
Method: Venipuncture or Amniocentesis/CVS by specialist
Laboratory Analysis
For blood samples, a standard venipuncture is performed. For prenatal samples (amniotic fluid or CVS), the procedure is done by a qualified obstetrician under ultrasound guidance. You may experience mild discomfort.
Report Delivery
For blood samples, apply pressure at the puncture site. For prenatal procedures, rest for a short period and avoid strenuous activity for 24 hours. Report any unusual symptoms like bleeding or fever to your doctor.
Timeline: Reports are typically available within 1 week (7 days) from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the FISH Trisomy 13 test is to confirm or rule out the presence of an extra chromosome 13, which is diagnostic of Patau syndrome. It is used prenatally to evaluate fetuses at increased risk based on maternal age, abnormal ultrasound findings, or positive screening tests. Postnatally, it helps in diagnosing infants with clinical features suggestive of trisomy 13. The rapid turnaround time of FISH allows timely genetic counseling and management planning.
How to Prepare
- Ensure the requisition form is completely filled and signed
- For amniocentesis, the sample must be collected in a sterile container
- For blood, use EDTA vacutainer and mix gently
- Transport samples to the lab within 48 hours at room temperature
- Do not freeze prenatal samples
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early detection of Trisomy 13 is crucial for parental counseling and management. This FISH test provides rapid, reliable results to guide clinical decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled or unaccompanied by requisition form
- Sample received after 48 hours of collection
- Frozen or refrigerated prenatal samples
Understanding Your Results
Normal (2 signals)
No evidence of Trisomy 13; risk of Patau syndrome is low.
Action: No further testing required unless other indications exist.
Abnormal (3 signals)
Presence of extra chromosome 13, consistent with Trisomy 13 / Patau syndrome.
Action: Confirmatory karyotype analysis and genetic counseling recommended.
Inconclusive
Insufficient cells or poor hybridization; repeat test or alternative testing advised.
Action: Discuss with geneticist for further evaluation.
Consult your doctor if you have concerns about your pregnancy or child's development, especially if you have risk factors for chromosomal abnormalities. Early consultation can help in making informed decisions.
Limitations
- ⚠FISH only detects targeted chromosomal abnormalities, not all genetic conditions
- ⚠Mosaic trisomy 13 may be missed if the abnormal cell line is low
- ⚠Results should be confirmed by karyotype analysis for full chromosomal evaluation
- ⚠Not a substitute for comprehensive genetic counseling
Risks & Considerations
- ●For blood draw: minor bruising or discomfort
- ●For amniocentesis: small risk of miscarriage (0.1-0.3%)
- ●For CVS: small risk of miscarriage or limb defects
- ●Emotional stress due to waiting for results
Interfering Factors
- ●Maternal cell contamination in prenatal samples
- ●Inadequate sample volume or poor DNA quality
- ●Recent blood transfusion (for blood samples)
- ●Sample collection during active infection or inflammation
Compare With Similar Tests
| Test | FISH - Trisomy 13 / Patau Syndrome Test | Karyotype Analysis | NIPT (Non-Invasive Prenatal Testing) |
|---|---|---|---|
| Comparison | FISH - Trisomy 13 / Patau Syndrome Test | Karyotype provides a full chromosomal picture but takes longer (2-3 weeks). FISH is faster (1 week) but targeted only to specific chromosomes. | NIPT is a screening test using maternal blood, while FISH is diagnostic on fetal tissue. NIPT has lower accuracy for rare trisomies. |
Frequently Asked Questions
What is the cost of the FISH Trisomy 13 test?
How is the FISH Trisomy 13 test performed?
What is the turnaround time for results?
Is fasting required before the test?
What samples are accepted for this test?
Can this test be done during pregnancy?
What does a positive result mean?
Is home sample collection available?
Are there any risks associated with the test?
Do I need a doctor's prescription for this test?
Can this test detect other chromosomal abnormalities?
How accurate is the FISH test?
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