SBDS Gene Aplastic anemia, SBDS related NGS Genetic Test
Short Name: SBDS Gene Test
Also known as: SBDS Gene Mutation Test, Shwachman-Diamond Syndrome Genetic Test, Aplastic Anemia Genetic Test
SBDS Gene Aplastic anemia, SBDS related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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
To identify mutations in the SBDS gene for diagnosing Shwachman-Diamond syndrome and assessing the risk of aplastic anemia, aiding in clinical management and genetic counseling.
- Test Code
- 4628
- 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 Technology
Sample Collection
Genetic counseling session recommended to discuss family history and draw a pedigree chart.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure performed by a trained phlebotomist.
Report Delivery
Sample is processed and sent to the laboratory for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the SBDS gene for diagnosing Shwachman-Diamond syndrome and assessing the risk of aplastic anemia, aiding in clinical management and genetic counseling.
How to Prepare
- Provide clinical history of the patient
- Undergo genetic counseling session for pedigree chart
- Ensure sample is collected in appropriate container
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SBDS gene mutations is crucial for diagnosing Shwachman-Diamond syndrome and assessing risks for aplastic anemia, guiding treatment and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
No pathogenic variants detected
Normal result; low genetic risk for SDS-related aplastic anemia.
Pathogenic variant detected
Positive for SBDS gene mutation; diagnosis of SDS likely, requiring clinical correlation and monitoring.
Variant of uncertain significance
Further testing or family studies may be needed for clarification.
If symptoms of aplastic anemia or Shwachman-Diamond syndrome are present, or if there is a family history of these conditions.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Bruising at the blood draw site
- ●Rare risk of infection
- ●Minimal discomfort
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample handling
Frequently Asked Questions
What is the SBDS gene?
What is aplastic anemia?
How is the SBDS gene test performed?
What is the cost of the SBDS gene test in India?
Is home sample collection available?
How long does it take to get results?
Who should consider this test?
What does a positive result mean?
Is genetic counseling required?
Are there any risks to the test?
Can this test be used for prenatal diagnosis?
What files are provided with the report?
Related Tests
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.
Book Your Test
Enter your details and we'll connect you within 15 minutes.