SKI Gene Shprintzen-Goldberg syndrome NGS Genetic Test
Short Name: SKI Gene SGS NGS Test
Also known as: Marfanoid-Craniosynostosis Syndrome, Marden-Walker Syndrome
SKI Gene Shprintzen-Goldberg syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 SKI Gene NGS Genetic Test is to identify mutations in the SKI gene associated with Shprintzen-Goldberg Syndrome, enabling accurate diagnosis, personalized management, and genetic counseling for affected individuals and families.
- Test Code
- 2818
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- Yes (8 hours)
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical history and family pedigree. A genetic counseling session is recommended to draw a pedigree chart of affected family members.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure using aseptic techniques. For FTA card, one drop of blood is sufficient.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Store samples at ambient room temperature as specified.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SKI Gene NGS Genetic Test is to identify mutations in the SKI gene associated with Shprintzen-Goldberg Syndrome, enabling accurate diagnosis, personalized management, and genetic counseling for affected individuals and families.
How to Prepare
- Ensure patient is fasting for 8-12 hours if required
- Use EDTA tube for blood collection
- Label samples correctly with patient details
- Transport samples at room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for diagnosing Shprintzen-Goldberg Syndrome and guiding management, especially for family planning and early intervention."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Incorrect sample type or container
Understanding Your Results
Consult a doctor if symptoms of Shprintzen-Goldberg Syndrome are present, for family planning if there is a family history, or after receiving test results for management guidance.
Limitations
- ⚠May not detect all types of genetic variations
- ⚠Requires clinical correlation for diagnosis
- ⚠Genetic counseling is essential for interpretation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood samples
Compare With Similar Tests
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|---|---|---|---|---|
| Comparison | SKI Gene Shprintzen-Goldberg syndrome NGS Genetic Test |
Frequently Asked Questions
What is Shprintzen-Goldberg Syndrome?
How is Shprintzen-Goldberg Syndrome diagnosed?
What is the SKI Gene NGS Genetic Test?
What is the cost of the SKI Gene NGS Genetic Test in India?
What sample is required for the test?
Is fasting required before the test?
How long does it take to get results?
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Is genetic counseling necessary?
Can the test detect all mutations?
Is home sample collection available?
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Reference 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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