CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic Test
Short Name: CBS Homocystinuria NGS Test
Also known as: CBS deficiency test, Homocystinuria genetic test, CBS gene mutation test
CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency 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. 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
The purpose of this test is to detect mutations in the CBS gene that cause homocystinuria, enabling accurate diagnosis, treatment planning, and genetic counseling for affected individuals and their families.
- Test Code
- 5327
- ICD Code
- E72.11
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. Provide clinical history and family pedigree.
Method: Venipuncture
Laboratory Analysis
Blood sample will be collected via venipuncture by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the CBS gene that cause homocystinuria, enabling accurate diagnosis, treatment planning, and genetic counseling for affected individuals and their families.
How to Prepare
- Fast for 8-10 hours if specified, but not required for this test
- Bring identification and prescription
- Inform about any medications or health conditions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This NGS test is essential for accurate diagnosis of homocystinuria, enabling early intervention and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Incorrect container
- Unlabeled sample
Understanding Your Results
No mutations detected
Low likelihood of CBS-related homocystinuria, but clinical correlation needed
Pathogenic mutation detected
Diagnosis of homocystinuria confirmed, genetic counseling recommended
If symptoms of homocystinuria are present or if family history suggests risk, consult a geneticist or metabolic specialist.
Limitations
- ⚠May not detect all types of mutations
- ⚠Results require interpretation by a geneticist
- ⚠Does not rule out other genetic disorders
Risks & Considerations
- ●Minor bruising at puncture site
- ●Rare infection risk
- ●No significant risks
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection
- ●Insufficient DNA yield
Compare With Similar Tests
| Test | CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic Test | Biochemical testing for homocysteine | Sanger sequencing |
|---|---|---|---|
| Comparison | CBS Gene Homocystinuria due to cystathionine beta-synthase deficiency NGS Genetic Test |
Frequently Asked Questions
What is homocystinuria?
What causes homocystinuria?
What are the symptoms of homocystinuria?
How is homocystinuria diagnosed?
What is the CBS gene?
What does the NGS genetic test involve?
How long does it take to get results?
Is the test painful?
Can the test be done at home?
What if the test is positive?
Is there a cure for homocystinuria?
How can I book this test?
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