ASPA Gene Canavan Disease NGS Genetic Test
Short Name: ASPA Gene NGS
Also known as: Canavan Disease Genetic Test, ASPA Gene Mutation Analysis, ASPA Gene Sequencing, Aspartoacylase Gene Test
ASPA Gene Canavan Disease 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 identify disease-causing variants in the ASPA gene using Next Generation Sequencing. It helps in confirming a clinical diagnosis of Canavan Disease, evaluating carrier status in at-risk individuals and families, and supporting genetic counselling and reproductive planning. Since Canavan Disease is inherited in an autosomal recessive pattern, defining the molecular basis in a child can also clarify recurrence risk for parents and other family members.
- Test Code
- 3943
- 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 fasting is required. A detailed clinical history and a genetic counselling session to draw a pedigree chart are recommended. Please carry any previous neurological, biochemical, or genetic reports.
Method: Venipuncture or FTA card dried blood spot
Laboratory Analysis
A trained phlebotomist will collect blood in an EDTA vacutainer or a few drops of blood on an FTA card. The procedure is quick and causes minimal discomfort. If extracted DNA is provided, it will be checked for quantity and quality.
Report Delivery
There are no restrictions after blood collection. The sample is transported to the laboratory and processed. The report will be delivered online, by email, or by WhatsApp within 3 to 4 weeks.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify disease-causing variants in the ASPA gene using Next Generation Sequencing. It helps in confirming a clinical diagnosis of Canavan Disease, evaluating carrier status in at-risk individuals and families, and supporting genetic counselling and reproductive planning. Since Canavan Disease is inherited in an autosomal recessive pattern, defining the molecular basis in a child can also clarify recurrence risk for parents and other family members.
How to Prepare
- Use an EDTA vacutainer for whole blood collection
- If using an FTA card, allow the blood spot to dry completely before packaging
- Label the sample correctly with patient name and date of collection
- Maintain proper transport conditions as advised by DNA Labs India
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counselling before and after testing is essential. In an autosomal recessive condition like Canavan Disease, the chance for carrier parents to have an affected child is 25% in each pregnancy. A precise molecular diagnosis helps couples make informed reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient blood volume
- Mislabelled or unlabelled sample
- Sample received in formalin or an inappropriate container
- Leaked or compromised sample packaging
Understanding Your Results
No pathogenic variant detected
Negative result. Clinical suspicion should be re-evaluated if symptoms are strongly suggestive of Canavan Disease.
One pathogenic or likely pathogenic variant detected
May indicate carrier status for Canavan Disease if the individual is asymptomatic. Family segregation studies may be recommended.
Two pathogenic or likely pathogenic variants detected
Consistent with autosomal recessive Canavan Disease.
Variant of Uncertain Significance detected
Inconclusive result. Additional testing of family members or further functional studies may be needed.
Consult a clinical geneticist, neuropediatrician, or genetic counselor if an infant has persistent developmental delay, hypotonia, macrocephaly, seizures, or feeding difficulty. Consultation is also recommended if a family member has been diagnosed with Canavan Disease or if genetic test results carry residual uncertainty.
Limitations
- ⚠This test only analyses the ASPA gene and may not detect all regulatory, deep intronic, or large deletion/duplication variants
- ⚠A Variant of Uncertain Significance may require additional family testing
- ⚠Sanger sequencing may be used to confirm NGS detected variants
- ⚠Results should be interpreted with clinical correlation and genetic counselling
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●Slight bleeding
- ●Rare local infection
- ●Fainting or dizziness due to needle prick
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Insufficient DNA yield
- ●Sample contamination
- ●Maternal cell contamination in prenatal samples
- ●Large structural rearrangements may not be detected by standard NGS
Compare With Similar Tests
| Test | ASPA Gene Canavan Disease NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | ASPA Gene Canavan Disease NGS Genetic Test |
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