DNAJB2 Gene Spinal muscular atrophy type 5 NGS Genetic Test
Short Name: DNAJB2 SMA5 NGS Test
Also known as: SMA5 Genetic Test, DNAJB2-related Spinal Muscular Atrophy Test, Spinal Muscular Atrophy Type 5 DNA Analysis
DNAJB2 Gene Spinal muscular atrophy type 5 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the DNAJB2 Gene Spinal Muscular Atrophy Type 5 NGS Genetic Test is to identify mutations in the DNAJB2 gene associated with SMA5. This aids in confirming diagnosis, assessing carrier status, guiding family planning, and enabling early management strategies to mitigate symptoms and improve patient outcomes.
- Test Code
- 4560
- 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
No specific preparation is required. Provide clinical history and undergo genetic counseling as recommended.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm, or a drop of blood may be collected on an FTA card. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless otherwise advised.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the DNAJB2 Gene Spinal Muscular Atrophy Type 5 NGS Genetic Test is to identify mutations in the DNAJB2 gene associated with SMA5. This aids in confirming diagnosis, assessing carrier status, guiding family planning, and enabling early management strategies to mitigate symptoms and improve patient outcomes.
How to Prepare
- Ensure proper identification and labeling of the sample
- Follow aseptic techniques to avoid contamination
- Transport the sample at ambient room temperature as specified
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for Spinal Muscular Atrophy Type 5 is crucial for early diagnosis, family planning, and personalized management. Consult a genetic counselor for comprehensive care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrectly labeled or insufficient sample volume
- Samples not stored or transported as per guidelines
Understanding Your Results
Normal
No pathogenic variants detected in the DNAJB2 gene. Clinical correlation is advised if symptoms persist.
Abnormal
Pathogenic or likely pathogenic variants identified, confirming a diagnosis of SMA5. Genetic counseling and further management are recommended.
Consult a doctor or genetic counselor if you experience symptoms of SMA5, have a family history of the disorder, or receive abnormal test results for appropriate diagnosis and management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Results require correlation with clinical findings and family history
- ⚠Does not rule out other genetic or non-genetic causes of similar symptoms
Risks & Considerations
- ●Minimal risks from blood draw, such as slight pain, bruising, or infection at the puncture site
- ●Psychological impact of genetic results; genetic counseling is recommended
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection or processing
- ●Recent blood transfusions may affect DNA analysis
Compare With Similar Tests
| Test | DNAJB2 Gene Spinal muscular atrophy type 5 NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | DNAJB2 Gene Spinal muscular atrophy type 5 NGS Genetic Test | Assesses electrical activity and nerve function but does not identify genetic mutations. | Examines muscle tissue under microscopy but is invasive and less specific for genetic causes. | Targets different genes and SMA types; not specific for SMA5. | Broader genetic analysis but more costly and time-consuming than targeted NGS for DNAJB2. |
Frequently Asked Questions
What is the DNAJB2 Gene SMA5 NGS Genetic Test?
Why is this test recommended?
What is the cost of the test in India?
Is home sample collection available?
What sample is required for the test?
How long does it take to get results?
Is fasting required before the test?
How accurate is the NGS Genetic Test for SMA5?
What do abnormal results mean?
Can this test be used for carrier testing?
Are there any risks associated with the test?
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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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