KBTBD13 Gene Nemaline myopathy type 6 NGS Genetic Test
Short Name: KBTBD13 NM Type 6 NGS Test
Also known as: NM type 6, KBTBD13-related myopathy, Nemaline myopathy 6
KBTBD13 Gene Nemaline myopathy type 6 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports typically available in 3 to 4 weeks from sample receipt.. 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 diagnose Nemaline myopathy type 6 by detecting pathogenic mutations in the KBTBD13 gene using NGS technology, aiding in clinical management, genetic counseling, and family screening.
- Test Code
- 1764
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports typically available in 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS) Technology
Sample Collection
No specific preparation required. Inform the lab of any medications or recent medical procedures.
Method: Venipuncture or saliva collection
Laboratory Analysis
Blood draw via venipuncture or saliva collection using a kit. Minimal discomfort expected.
Report Delivery
Apply pressure to the puncture site if blood is drawn. Store samples as instructed for stability.
Timeline: Reports typically available in 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Nemaline myopathy type 6 by detecting pathogenic mutations in the KBTBD13 gene using NGS technology, aiding in clinical management, genetic counseling, and family screening.
How to Prepare
- Use sterile equipment for blood collection
- Label samples with patient details and date
- Transport samples at ambient room temperature within 48 hours
- For saliva collection, follow kit instructions carefully
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Nemaline myopathy type 6 can provide a definitive diagnosis, enabling early intervention and family counseling. Consult a genetic specialist for personalized care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Unlabeled or mislabeled samples
- Samples older than stability period
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Nemaline myopathy type 6; recommend genetic counseling and clinical management
Likely pathogenic variant detected
Suggests high risk for the condition; further clinical evaluation and family testing advised
Variant of uncertain significance (VUS)
Genetic impact unclear; monitor clinically and consider repeat testing or family studies
No pathogenic variant detected
Reduces likelihood of KBTBD13-related myopathy, but does not exclude other genetic causes; consider additional tests
Consult a doctor or genetic specialist if symptoms of muscle weakness persist, for pre-test genetic counseling, or after receiving results to discuss management and family implications.
Limitations
- ⚠May not detect all possible mutations in the KBTBD13 gene, such as deep intronic variants
- ⚠Results require clinical correlation and are not standalone diagnostic tools
- ⚠Genetic counseling is recommended for interpretation
- ⚠Does not rule out other causes of nemaline myopathy or related disorders
Risks & Considerations
- ●Minimal risks from blood draw: bruising, infection, or dizziness
- ●No risks associated with genetic testing itself, but psychological impact possible; counseling available
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Recent blood transfusion may affect results
- ●Technical limitations in detecting mosaicism or large rearrangements
Compare With Similar Tests
| Test | KBTBD13 Gene Nemaline myopathy type 6 NGS Genetic Test | ACTA1 Gene NGS Test | Muscle Biopsy | Electromyography (EMG) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | KBTBD13 Gene Nemaline myopathy type 6 NGS Genetic Test |
Frequently Asked Questions
What is Nemaline myopathy type 6?
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How is the test performed?
What is the cost of the KBTBD13 Gene NGS Test?
Is home sample collection available?
How long does it take to get results?
What does a positive result mean?
Can this test detect all mutations?
Is genetic counseling necessary before testing?
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Why choose DNA Labs India for this test?
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