CTH Gene Cystathioninuria NGS Genetic Test
Short Name: CTH Gene Cystathioninuria Test
Also known as: Cystathioninuria NGS Test, CTH Gene Mutation Test
CTH Gene Cystathioninuria NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, 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
To detect mutations in the CTH gene for the diagnosis of cystathioninuria, a metabolic disorder.
- Test Code
- 4659
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with cystathioninuria.
Laboratory Analysis
Your sample is analyzed using NGS Technology in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the CTH gene for the diagnosis of cystathioninuria, a metabolic disorder.
How to Prepare
- Blood sample collected via venipuncture.
- For FTA card, one drop of blood is sufficient.
- Ensure proper labeling and handling.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for diagnosing cystathioninuria, especially in families with a history of metabolic disorders. Early detection allows for appropriate management and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
Positive
Pathogenic variants detected in CTH gene, confirming cystathioninuria.
Negative
No pathogenic variants detected, cystathioninuria unlikely.
Variant of Uncertain Significance
Further testing or clinical correlation may be needed.
If you have a family history of cystathioninuria or experience symptoms such as abnormal urine odor, developmental delays, seizures, or other related issues.
Risks & Considerations
- ●Minor bruising at blood draw site
- ●Infection risk (rare)
Frequently Asked Questions
What is cystathioninuria?
What causes cystathioninuria?
What are the symptoms of cystathioninuria?
How is cystathioninuria diagnosed?
What is the CTH Gene Cystathioninuria NGS Genetic Test?
How is the test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What do the test results mean?
Is genetic counseling necessary?
Can cystathioninuria be treated?
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Reference 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.
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