B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test
Short Name: B3GALT6 SEMDJL1 NGS Test
Also known as: SEMDJL1, B3GALT6-related spondyloepimetaphyseal dysplasia, Spondyloepimetaphyseal dysplasia with joint laxity type 1
B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 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 Results are typically available within 3 to 4 weeks after 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 mutations in the B3GALT6 gene associated with Spondyloepimetaphyseal dysplasia with joint laxity, type 1 (SEMDJL1), confirm clinical suspicion, guide treatment decisions, and facilitate genetic counseling for affected individuals and families.
- Test Code
- 5135
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Genetic counseling is recommended to discuss test implications, family history, and obtain informed consent. No fasting is required.
Method: Venipuncture or FTA card spotting
Laboratory Analysis
A blood sample is drawn via venipuncture or a drop of blood is applied to an FTA card by a trained phlebotomist.
Report Delivery
The sample is labeled, stored at ambient temperature, and transported to the laboratory for DNA extraction and NGS analysis.
Timeline: Results are typically available within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
To diagnose mutations in the B3GALT6 gene associated with Spondyloepimetaphyseal dysplasia with joint laxity, type 1 (SEMDJL1), confirm clinical suspicion, guide treatment decisions, and facilitate genetic counseling for affected individuals and families.
How to Prepare
- No fasting required prior to sample collection
- Bring clinical history and family pedigree chart if available
- Ensure proper identification and labeling of samples
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is essential for confirming SEMDJL1 diagnosis, enabling early intervention and family genetic counseling to manage skeletal abnormalities and prevent fractures."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of SEMDJL1; genetic counseling and management recommended.
Negative for pathogenic variant
No B3GALT6 mutations detected; consider other genetic or non-genetic causes.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed for clarification.
Likely pathogenic variant
High probability of association with SEMDJL1; clinical correlation advised.
If the test result is positive, VUS, or if symptoms persist despite negative results, consult a geneticist or orthopedic specialist for comprehensive evaluation and management.
Limitations
- ⚠May not detect large deletions or duplications without additional methods
- ⚠Variant of uncertain significance (VUS) may require further investigation
- ⚠Does not rule out other genetic causes of similar phenotypes
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Potential emotional distress from test results
- ●Financial cost without guaranteed insurance coverage
Interfering Factors
- ●Sample contamination or degradation
- ●Insufficient DNA quantity or quality
- ●Technical errors in sequencing library preparation
Compare With Similar Tests
| Test | B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test | Whole Exome Sequencing | Skeletal Dysplasia Gene Panel | Chromosomal Microarray | Biochemical Bone Marker Tests |
|---|---|---|---|---|---|
| Comparison | B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test |
Frequently Asked Questions
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