B3GAT3 Gene Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NGS Genetic Test
Short Name: B3GAT3 NGS Genetic Test
Also known as: B3GAT3 Gene Sequencing, B3GAT3 Mutation Analysis, Linkeropathy NGS Panel
B3GAT3 Gene Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects 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 Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. 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 this test is to confirm a clinical diagnosis of B3GAT3-related disorder, identify the specific genetic mutation, and provide information for genetic counseling and family planning. It is also useful for prenatal testing in at-risk pregnancies and for carrier screening in family members.
- Test Code
- 5858
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended to draw a pedigree chart and discuss the implications of the test.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare required. Patients can resume normal activities immediately.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of B3GAT3-related disorder, identify the specific genetic mutation, and provide information for genetic counseling and family planning. It is also useful for prenatal testing in at-risk pregnancies and for carrier screening in family members.
How to Prepare
- Use EDTA tube for blood collection
- For FTA card, apply one drop of blood on the designated circle
- Label the sample with patient name and date of birth
- Transport at ambient temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"B3GAT3 gene mutations are rare but clinically significant. Early genetic diagnosis is crucial for managing cardiac and skeletal complications. This NGS test provides comprehensive analysis for accurate diagnosis and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Clotted blood
- Insufficient quantity
- Improper labeling
Understanding Your Results
Pathogenic variant detected (homozygous or compound heterozygous)
Confirms diagnosis of B3GAT3-related disorder. Genetic counseling recommended for family planning.
Pathogenic variant detected (heterozygous)
Indicates carrier status. No clinical symptoms expected but at-risk for having affected offspring.
No pathogenic variant detected
Does not rule out the condition; other genetic or non-genetic causes may be considered.
Variant of uncertain significance (VUS)
Further testing or family segregation analysis may be needed to clarify clinical significance.
Consult a geneticist or pediatrician if you or your child exhibit symptoms such as multiple joint dislocations, short stature, craniofacial abnormalities, or congenital heart defects. Early diagnosis can significantly improve management and outcomes.
Limitations
- ⚠This test does not detect large deletions/duplications or deep intronic variants
- ⚠Variant of uncertain significance may require further analysis
- ⚠Not a substitute for clinical evaluation
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for variants of uncertain significance
Interfering Factors
- ●Contamination of sample
- ●Insufficient DNA quantity
- ●Presence of maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | B3GAT3 Gene Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NGS Genetic Test | Whole Exome Sequencing | Sanger Sequencing | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | B3GAT3 Gene Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects NGS Genetic Test | WES analyzes all coding regions of the genome, while this test focuses only on the B3GAT3 gene. WES is more comprehensive but costlier and may take longer. | Sanger sequencing is used for targeted single-gene analysis but is less efficient for large genes. NGS is faster and more cost-effective for single-gene testing. | CMA detects copy number variations but does not identify single nucleotide variants. This NGS test is specific for point mutations in B3GAT3. |
Frequently Asked Questions
What is the B3GAT3 gene?
What are the symptoms of B3GAT3 gene mutations?
How is B3GAT3 gene mutation inherited?
What is the cost of the B3GAT3 gene NGS genetic test?
What sample is required for the test?
How long does it take to get the results?
Is fasting required before the test?
Can this test be done on children?
What does a positive result mean?
Are there any risks associated with the test?
Is home sample collection available?
What is the role of genetic counseling?
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₹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.
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