CTSA Gene Galactosialidosis NGS Genetic Test
Short Name: Galactosialidosis NGS Test
Also known as: CTSA Gene Test, Galactosialidosis Genetic Testing, CTSA Mutation Analysis
CTSA Gene Galactosialidosis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 the CTSA Gene Galactosialidosis NGS Genetic Test is to identify mutations in the CTSA gene, enabling accurate diagnosis of galactosialidosis. This aids in confirming the disease, guiding treatment decisions, facilitating genetic counseling, and informing family risk assessment.
- Test Code
- 2003
- 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
- NGS Technology
Sample Collection
Genetic counseling is recommended prior to sample collection. No fasting is required, but a clinical history and pedigree chart should be prepared.
Method: Venipuncture or Finger Prick
Laboratory Analysis
Sample will be collected by a trained phlebotomist using sterile techniques for blood draw or FTA card preparation.
Report Delivery
The sample will be securely transported to the laboratory for DNA extraction and NGS analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CTSA Gene Galactosialidosis NGS Genetic Test is to identify mutations in the CTSA gene, enabling accurate diagnosis of galactosialidosis. This aids in confirming the disease, guiding treatment decisions, facilitating genetic counseling, and informing family risk assessment.
How to Prepare
- Use sterile EDTA tubes or FTA cards for blood collection
- Ensure proper labeling of samples with patient details
- Store samples at ambient temperature before shipping
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for galactosialidosis is crucial for early diagnosis, management, and informed family planning. Consult a healthcare provider for personalized counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect sample type or container
- Missing patient identification or consent
Understanding Your Results
Mutation Detected
Confirms diagnosis of galactosialidosis; recommend genetic counseling and management planning.
No Mutation Detected
Galactosialidosis unlikely based on CTSA gene analysis; consider other diagnoses if symptoms persist.
Variant of Uncertain Significance (VUS)
Further testing or family studies may be needed; genetic counseling is essential.
Inconclusive
Repeat testing or alternative methods may be required; consult geneticist for guidance.
Consult a healthcare provider or genetic specialist if the test result is positive, uncertain, or if there is a family history of galactosialidosis for counseling and management.
Limitations
- ⚠May not detect all possible mutations in the CTSA gene
- ⚠Results require interpretation by a genetic specialist
- ⚠Not a screening test for asymptomatic individuals without risk factors
Risks & Considerations
- ●Standard blood draw risks: minor bruising or discomfort
- ●Genetic information may have psychological or social implications
- ●Risk of data privacy concerns
Interfering Factors
- ●Degraded or low-quality DNA sample
- ●Contamination during sample collection or processing
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | CTSA Gene Galactosialidosis NGS Genetic Test | Lysosomal Storage Disorder Panel | Whole Exome Sequencing | Enzyme Assay for Cathepsin A | Targeted Mutation Analysis |
|---|---|---|---|---|---|
| Comparison | CTSA Gene Galactosialidosis NGS Genetic Test |
Frequently Asked Questions
What is the CTSA Gene Galactosialidosis NGS Genetic Test?
What is the cost of this test in India?
What sample type is required?
How long does it take to get results?
Is home sample collection available?
What are the symptoms of galactosialidosis?
How is galactosialidosis diagnosed?
What does a positive test result mean?
Is genetic counseling necessary before the test?
Can this test detect all mutations in the CTSA gene?
Is the test covered by insurance?
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