SMARCAL1 Gene Schimke immunoosseous dysplasia NGS Genetic Test
Short Name: SMARCAL1 Gene Test
SMARCAL1 Gene Schimke immunoosseous dysplasia 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
This test is designed to diagnose Schimke immunoosseous dysplasia by identifying mutations in the SMARCAL1 gene using next-generation sequencing technology.
- Test Code
- 5616
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Schimke immunoosseous dysplasia.
Laboratory Analysis
Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
This test is designed to diagnose Schimke immunoosseous dysplasia by identifying mutations in the SMARCAL1 gene using next-generation sequencing technology.
How to Prepare
- Blood sample: Collect in EDTA tube.
- Extracted DNA: Provide in appropriate buffer.
- FTA Card: One drop of blood on FTA card.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive
Pathogenic variant detected, confirming Schimke immunoosseous dysplasia.
Negative
No pathogenic variant detected; clinical correlation recommended.
If you or a family member exhibits symptoms such as short stature, recurrent infections, or kidney problems, consult a healthcare provider for genetic testing.
Risks & Considerations
- ●Minimal physical risk from blood draw.
- ●Potential psychological impact of genetic results.
Frequently Asked Questions
What is Schimke immunoosseous dysplasia?
What are the symptoms of Schimke immunoosseous dysplasia?
How is Schimke immunoosseous dysplasia diagnosed?
What is the SMARCAL1 gene test?
What does the test involve?
How long does it take to get results?
What is the cost of the test?
Is home sample collection available?
Who should consider this test?
What if the test is positive?
What if the test is negative?
Is genetic counseling included?
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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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