ASAH1 Gene Farber disease NGS Genetic Test
Short Name: Farber Disease NGS Test
ASAH1 Gene Farber disease 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
This test is designed for the molecular diagnosis of Farber disease by sequencing the ASAH1 gene to detect causative mutations, aiding in confirmation of clinical symptoms, carrier testing, and genetic counseling.
- Test Code
- 1990
- 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
Provide clinical history and undergo genetic counseling to draw a family pedigree chart.
Method: Venipuncture or Fingerprick
Laboratory Analysis
Blood sample collected via venipuncture or fingerprick in a sterile environment.
Report Delivery
Apply pressure to the collection site to prevent bleeding. Sample sent to lab for analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
This test is designed for the molecular diagnosis of Farber disease by sequencing the ASAH1 gene to detect causative mutations, aiding in confirmation of clinical symptoms, carrier testing, and genetic counseling.
How to Prepare
- Ensure patient provides complete clinical history
- Genetic counseling session to document family history of Farber disease
- Use appropriate collection tubes or FTA cards
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Farber disease is essential for managing symptoms and guiding family planning. Consult a genetic specialist or gynecologist for comprehensive care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
If symptoms of Farber disease are present, there is a family history of the disorder, or if genetic counseling is needed for family planning.
Limitations
- ⚠Detects only known mutations in the ASAH1 gene
- ⚠May not identify all genetic variants
- ⚠Does not rule out other metabolic disorders
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Emotional impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Improper sample storage or handling
- ●Recent blood transfusion
Frequently Asked Questions
What is the ASAH1 Gene Farber Disease NGS Genetic Test?
What are the common symptoms of Farber disease?
How is Farber disease diagnosed?
What is the cost of this test at DNA Labs India?
How long does it take to receive the results?
Is home sample collection available for this test?
What sample is required for the test?
Is fasting required before the test?
What does a positive test result mean?
Can the test detect all mutations in the ASAH1 gene?
Is genetic counseling recommended before testing?
How can I book the ASAH1 Gene Farber Disease NGS Genetic Test?
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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.
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