SHH Gene Holoprosencephaly type 3 NGS Genetic Test
Short Name: SHH Gene HPE Type 3 Test
Also known as: SHH Gene Test, Holoprosencephaly Type 3 Genetic Test, Sonic Hedgehog Gene Test
SHH Gene Holoprosencephaly type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. 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 purpose of the SHH Gene Holoprosencephaly Type 3 NGS Genetic Test is to detect mutations in the SHH gene for accurate diagnosis of Holoprosencephaly Type 3, enabling genetic counseling, family planning, and informed medical management.
- Test Code
- 5778
- ICD Code
- Q04.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS (Next Generation Sequencing)
Sample Collection
No specific preparation is required. Provide clinical history and undergo genetic counseling to draw a pedigree chart.
Method: Venipuncture or blood drop
Laboratory Analysis
A blood sample is drawn via venipuncture or a blood drop is collected on an FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed and send to the laboratory promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SHH Gene Holoprosencephaly Type 3 NGS Genetic Test is to detect mutations in the SHH gene for accurate diagnosis of Holoprosencephaly Type 3, enabling genetic counseling, family planning, and informed medical management.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label the sample correctly with patient details
- Transport at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and genetic counseling in families with a history of holoprosencephaly, aiding in prenatal and postnatal management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect labeling or missing information
Understanding Your Results
No pathogenic variant detected
No SHH gene mutation identified; clinical correlation recommended.
Pathogenic variant detected
Confirms diagnosis of HPE Type 3; genetic counseling advised for family implications.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
Consult a doctor or genetic counselor immediately after receiving results, especially if a pathogenic variant is detected, to discuss management, recurrence risks, and family planning options.
Limitations
- ⚠May not detect all genetic variants or mosaicism
- ⚠Results require interpretation by a genetic counselor
- ⚠Does not rule out other genetic causes of holoprosencephaly
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling recommended
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | SHH Gene Holoprosencephaly type 3 NGS Genetic Test | Whole Exome Sequencing | Chromosomal Microarray | Targeted Gene Panel for HPE | Prenatal Genetic Testing |
|---|---|---|---|---|---|
| Comparison | SHH Gene Holoprosencephaly type 3 NGS Genetic Test |
Frequently Asked Questions
What is the SHH Gene Holoprosencephaly Type 3 NGS Genetic Test?
What is the cost of this test?
What are the symptoms of Holoprosencephaly Type 3?
How is the test performed?
What is the turnaround time for results?
Is fasting required for this test?
Who should consider this test?
What does a positive result mean?
Is genetic counseling provided?
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What files are provided with the report?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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