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Nx Gen Sequencing: Canavan Disease Test

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Nx Gen Sequencing: Canavan Disease Test

Short Name: Canavan Disease NGS Test

Also known as: Canavan Disease Genetic Test, ASPA Gene Sequencing, N-acetylaspartic Acid Disorder Test

Nx Gen Sequencing: Canavan Disease Test test available at DNA Labs India for ₹23,400. Uses Next-Generation Sequencing (NGS), Sanger sequencing on Whole Blood samples. Results in 40 Working days from sample receipt. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the Nx Gen Sequencing for Canavan disease is to identify mutations in the ASPA gene that cause the disorder. This genetic test confirms diagnosis, differentiates from other neurological conditions, supports genetic counseling, guides treatment decisions, and informs family planning by assessing carrier status in relatives.

Test Code
1339
Price
₹23,400
Sample Type
Whole Blood
Result Time
40 Working days from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger sequencing
Step 1

Sample Collection

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory. Genetic counseling recommended prior to testing.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure to collect 10 mL whole blood into two EDTA tubes.

Step 3

Report Delivery

Ship samples refrigerated, do not freeze. Ensure proper labeling and documentation.

Timeline: 40 Working days from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling to understand implications, risks, and benefits of testing.
2
During the Test:Blood sample collection via venipuncture; process is similar to routine blood draw.
3
After the Test:Wait for report (40 working days); follow up with genetic counselor for result interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the Nx Gen Sequencing for Canavan disease is to identify mutations in the ASPA gene that cause the disorder. This genetic test confirms diagnosis, differentiates from other neurological conditions, supports genetic counseling, guides treatment decisions, and informs family planning by assessing carrier status in relatives.

How to Prepare

  • Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes
  • Ship refrigerated, DO NOT FREEZE
  • Include duly filled Whole Exome Sequencing Consent Form (Form 37)
  • Maintain sample stability at room temperature for up to 6 hours or refrigerated for 72 hours

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for Canavan disease is crucial for timely management and family planning. Nx Gen Sequencing provides a comprehensive analysis of the ASPA gene."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume10 mL (5 mL min.)
Container2 Lavender Top (EDTA) tubes
Collection MethodVenipuncture

Sample Stability

Room Temperature6 hours
Refrigerated72 hours
FrozenNot accepted
Sample Rejection Criteria:
  • Frozen samples
  • Insufficient sample volume (<5 mL)
  • Missing or incomplete consent form
  • Samples stored beyond stability period

Understanding Your Results

Test results indicate the presence or absence of mutations in the ASPA gene. Interpretation should be done in conjunction with clinical evaluation and genetic counseling.
📊

Positive

Pathogenic mutations detected, confirming Canavan disease diagnosis

📊

Negative

No pathogenic mutations detected; symptoms may be due to other causes

📊

Variant of Uncertain Significance (VUS)

Genetic variant found, but clinical significance unknown; further testing or family studies may be needed

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if test results are positive, if symptoms persist despite negative results, or for family planning and carrier testing.

Limitations

  • ⚠May not detect all possible genetic variants or mutations
  • ⚠Results require correlation with clinical symptoms and family history
  • ⚠Cannot determine disease severity or progression

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Very low risk of infection or hematoma
  • ●Emotional distress from test results

Interfering Factors

  • ●Sample contamination during collection or transport
  • ●Technical errors in sequencing or data analysis
  • ●Insufficient sample volume or improper storage

Frequently Asked Questions

What is Canavan disease?
Canavan disease is a rare genetic disorder affecting the brain's white matter, caused by mutations in the ASPA gene leading to aspartoacylase enzyme deficiency.
What causes Canavan disease?
It is caused by mutations in the ASPA gene, inherited in an autosomal recessive pattern, leading to N-acetylaspartic acid buildup and myelin sheath damage.
What are the common symptoms of Canavan disease?
Symptoms include developmental delays, muscle stiffness, seizures, feeding difficulties, abnormal muscle tone, and sensory problems, typically appearing in infancy.
How is Canavan disease diagnosed?
Diagnosis involves clinical evaluation and genetic testing, such as Nx Gen Sequencing, to identify ASPA gene mutations.
What is Nx Gen Sequencing?
Nx Gen Sequencing is a next-generation sequencing technology that analyzes multiple genes with high accuracy for detecting genetic mutations, including those causing Canavan disease.
How much does the Canavan disease test cost?
At DNA Labs India, the Nx Gen Sequencing for Canavan disease costs INR 23400, inclusive of genetic counseling and home collection.
What sample is required for the test?
A 10 mL whole blood sample collected in two EDTA tubes, shipped refrigerated, with a mandatory consent form.
How long does it take to get test results?
Results are typically available within 40 working days from sample receipt.
Is home sample collection available?
Yes, free home collection is available for online bookings across major cities in India.
What do positive test results mean?
Positive results confirm Canavan disease diagnosis due to pathogenic mutations in the ASPA gene, requiring further medical consultation.
Can Canavan disease be treated?
There is no cure, but early diagnosis supports symptom management, supportive therapies, and genetic counseling for families.
Is genetic counseling provided with the test?
Yes, genetic counseling is included to help patients understand results, implications, and next steps.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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