B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test
Short Name: B3GALT6 NGS Test
Also known as: SEMDJL1 Genetic Test, B3GALT6 Gene Sequencing
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 3 to 4 weeks from sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of SEMDJL1 by identifying pathogenic mutations in the B3GALT6 gene. It also aids in carrier testing for at-risk family members, prenatal diagnosis in subsequent pregnancies, and differentiation from other skeletal dysplasias with overlapping phenotypes. Early molecular confirmation allows for proactive management of fractures, scoliosis, and joint instability, improving quality of life.
- Test Code
- 5944
- CPT Code
- 81408
- ICD Code
- Q77.7
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture or Finger prick
Laboratory Analysis
Blood sample is collected by venipuncture or finger prick onto FTA card. Ensure proper labeling and handling.
Report Delivery
No specific precautions. The sample is transported to the laboratory at ambient temperature.
Timeline: 3 to 4 weeks from sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of SEMDJL1 by identifying pathogenic mutations in the B3GALT6 gene. It also aids in carrier testing for at-risk family members, prenatal diagnosis in subsequent pregnancies, and differentiation from other skeletal dysplasias with overlapping phenotypes. Early molecular confirmation allows for proactive management of fractures, scoliosis, and joint instability, improving quality of life.
How to Prepare
- Use EDTA vacutainer for blood collection
- For FTA card, apply one drop of blood and allow to dry
- Label the sample with patient ID and date
- Transport at room temperature within 24 hours
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for SEMDJL1 is crucial for accurate diagnosis and management. Early detection can help in planning supportive care and surveillance for fractures and skeletal complications."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged delay without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of SEMDJL1. Genetic counseling recommended for family planning.
Likely pathogenic variant detected
Highly suggestive of SEMDJL1. Further confirmation may be needed.
Variant of uncertain significance (VUS)
Cannot be definitively classified. Additional family testing or functional studies may be required.
No pathogenic variant detected
No evidence of B3GALT6-related SEMDJL1. Other genetic causes may be considered.
Consult a clinical geneticist or pediatrician if your child shows signs of skeletal dysplasia, joint laxity, or recurrent fractures. Genetic counseling is recommended before and after testing.
Limitations
- ⚠NGS may not detect large deletions/duplications or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Negative result does not rule out other genetic causes of skeletal dysplasia
- ⚠Test is not intended for carrier screening in general population
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete clinical information for variant interpretation
Compare With Similar Tests
| Test | B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test | Whole Exome Sequencing (WES) | Skeletal Dysplasia Panel | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test | WES analyzes all coding regions of the genome, while this targeted NGS test focuses only on B3GALT6. WES is more comprehensive but costlier and may take longer. | A multi-gene panel includes B3GALT6 and other genes associated with skeletal dysplasias. This targeted test is more specific and cost-effective if SEMDJL1 is strongly suspected. | Sanger sequencing is used for confirmation of specific variants identified by NGS. It is not suitable for initial screening of multiple genes. |
Frequently Asked Questions
What is the cost of the B3GALT6 gene NGS test?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get results?
Is home sample collection available?
What does the test detect?
Who should consider this test?
Will the test detect all types of mutations?
What is the turnaround time for reports?
Is genetic counseling included?
Can this test be done for prenatal diagnosis?
What is the accuracy of this test?
Related Tests
ACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test
₹20,000SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic Test
₹20,000Comprehensive Ear Nose Throat Panel NGS Genetic Test
₹20,000ATAC Sequencing
₹48,000PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test
₹20,000IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test
₹20,000Reference 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.