SBDS Gene Shwachman-Diamond syndrome NGS Genetic Test
Short Name: SBDS Gene SDS NGS Test
Also known as: Shwachman-Diamond Syndrome, SDS
SBDS Gene Shwachman-Diamond syndrome 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the SBDS Gene Shwachman-Diamond Syndrome NGS Genetic Test is to identify pathogenic mutations in the SBDS gene, confirming a diagnosis of Shwachman-Diamond Syndrome. This enables early intervention, personalized treatment planning, genetic counseling for families, and monitoring for potential complications such as leukemia or bone marrow dysfunction.
- Test Code
- 5618
- 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
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Shwachman-Diamond Syndrome.
Method: Blood Draw
Laboratory Analysis
Standard blood draw procedure; alternatively, extracted DNA or one drop of blood on an FTA card can be used.
Report Delivery
Post-test genetic counseling to discuss results, implications, and next steps for management or family planning.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the SBDS Gene Shwachman-Diamond Syndrome NGS Genetic Test is to identify pathogenic mutations in the SBDS gene, confirming a diagnosis of Shwachman-Diamond Syndrome. This enables early intervention, personalized treatment planning, genetic counseling for families, and monitoring for potential complications such as leukemia or bone marrow dysfunction.
How to Prepare
- Ensure proper identification and labeling of the sample
- Use sterile equipment for blood collection
- Follow guidelines for FTA card usage if applicable
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for Shwachman-Diamond Syndrome can guide management, improve quality of life, and prevent serious complications such as leukemia or bone abnormalities."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive for pathogenic SBDS mutation
Confirms diagnosis of Shwachman-Diamond Syndrome; recommend clinical management and genetic counseling.
Negative for pathogenic SBDS mutation
No mutations detected; consider other diagnoses or repeat testing if symptoms persist.
Variant of uncertain significance (VUS)
Further evaluation and family studies may be needed; consult with a genetic specialist.
Consult a healthcare provider if experiencing symptoms such as chronic diarrhea, failure to thrive, bone abnormalities, or low blood counts, or if there is a family history of Shwachman-Diamond Syndrome.
Limitations
- ⚠May not detect all genetic variants or mosaicism
- ⚠Results require clinical correlation and genetic counseling
- ⚠Turnaround time may vary based on sample quality
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling provided
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Technical errors during sequencing
Frequently Asked Questions
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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.
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