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DNA Labs India

Canavan Disease Test

DNA Labs India | ISO 9001:2015 Certified

Canavan Disease Test

Also known as: Canavan Disease Urine Test, N-Acetylaspartic Acid (NAA) Test, ASPA Gene Related Test, Aspartoacylase Deficiency Screening, Canavan Leukodystrophy Test

Canavan Disease Test test available at DNA Labs India for ₹4,500. Uses Gas Chromatography-Mass Spectrometry (GC-MS) on Random Urine samples. Results in Results are typically available within 5 working days from sample receipt at the laboratory. Reports can be accessed through the online patient portal, email, or WhatsApp.. Free home collection in 300+ cities across India.

Biochemical Genetic ScreeningUnisexPediatric / 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 Canavan Disease Test is to screen for elevated levels of N-acetylaspartic acid (NAA) in urine, which is a key biochemical marker associated with Canavan disease. This test aids in the early identification and diagnosis of aspartoacylase deficiency, enabling healthcare providers to initiate appropriate supportive management, arrange genetic counseling, and plan confirmatory genetic testing (ASPA gene sequencing) when indicated.

Test Code
259
CPT Code
81479
ICD Code
E75.2
Price
₹4,500
Sample Type
Random Urine
Result Time
Results are typically available within 5 working days from sample receipt at the laboratory. Reports can be accessed through the online patient portal, email, or WhatsApp.
Fasting Required
No
Method
Gas Chromatography-Mass Spectrometry (GC-MS)
Step 1

Sample Collection

Provide a brief clinical history including symptoms, family history, ethnic background, and any current medications. No fasting is required. Ensure the sterile screw-capped container is free of preservatives.

Method: Clean-catch midstream urine collection

Step 2

Laboratory Analysis

Collect a minimum of 5 mL (10 mL preferred) of random urine using a clean-catch midstream technique into a sterile screw-capped container. For infants, use a sterile pediatric urine collection bag.

Step 3

Report Delivery

Label the container with patient details and time of collection. Refrigerate the sample immediately if delivery to the lab will take more than 6 hours. Do not add any preservatives.

Timeline: Results are typically available within 5 working days from sample receipt at the laboratory. Reports can be accessed through the online patient portal, email, or WhatsApp.

Patient Instructions

1
Before the Test:No fasting is required. Provide a brief clinical history including the child's symptoms, developmental milestones, family history of genetic disorders, and ethnic background. Inform the healthcare provider about any medications the child is currently taking.
2
During the Test:A random urine sample (minimum 5 mL, preferred 10 mL) will be collected in a sterile preservative-free container. For infants, a sterile pediatric urine collection bag may be used. The collection process is non-invasive and painless.
3
After the Test:After sample collection, the container will be sealed, labeled, and transported to the laboratory under appropriate temperature conditions. There is no recovery period or post-collection restrictions. Resume normal activities immediately.

About This Test

Who Should Get This Test

The purpose of the Canavan Disease Test is to screen for elevated levels of N-acetylaspartic acid (NAA) in urine, which is a key biochemical marker associated with Canavan disease. This test aids in the early identification and diagnosis of aspartoacylase deficiency, enabling healthcare providers to initiate appropriate supportive management, arrange genetic counseling, and plan confirmatory genetic testing (ASPA gene sequencing) when indicated.

How to Prepare

  • Use a sterile, preservative-free, screw-capped urine container provided by DNA Labs India
  • Collect at least 5 mL (10 mL preferred) of random urine via clean-catch midstream technique
  • For infants, use a sterile pediatric urine collection bag and transfer to the container
  • Do not add any preservatives to the sample
  • Refrigerate the sample immediately after collection if not delivering within 6 hours
  • Ship the sample refrigerated or frozen to maintain stability during transport
  • Include a completed requisition form with brief clinical history and relevant family history

Doctor's Notes

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

"As an obstetrician with a focus on reproductive genetics, I strongly recommend carrier screening for Canavan disease — particularly for individuals of Ashkenazi Jewish descent or those with a known family history. When both parents carry an ASPA gene mutation, there is a 25% chance with each pregnancy of having an affected child. This urine-based NAA screening test is a valuable initial diagnostic tool for symptomatic infants presenting with poor head control, hypotonia, developmental delays, or macrocephaly. If results are abnormal, confirmatory ASPA gene sequencing and genetic counseling should follow promptly. Prenatal testing options are also available for at-risk pregnancies. Early identification empowers families to make informed decisions about care planning and future pregnancies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeRandom Urine
Sample Volume10 mL (5 mL minimum)
ContainerSterile screw-capped container without preservatives
Collection MethodClean-catch midstream urine collection

Sample Stability

Room Temperature: Stable for up to 6 hours
Refrigerated (2–8°C): Stable for up to 72 hours
Frozen (−20°C): Stable for up to 4 weeks
Sample Rejection Criteria:
  • Urine container with preservatives added
  • Sample volume less than 5 mL
  • Unrefrigerated sample received after 6 hours from collection
  • Leaking, unlabeled, or improperly sealed containers
  • Contaminated samples (e.g., stool contamination in pediatric collections)

Understanding Your Results

The Canavan Disease Test detects the level of N-acetylaspartic acid (NAA) in urine using Gas Chromatography-Mass Spectrometry (GC-MS). Results should be interpreted by a qualified healthcare provider in the context of clinical findings and family history. The following guide provides a general framework for understanding test results.
📊

NAA levels in urine are within normal limits or not detected. This result is inconsistent with Canavan disease. If clinical suspicion remains high, repeat testing or alternative diagnostic approaches (including ASPA gene sequencing and brain MRI) may be considered.

📊

Markedly elevated urinary NAA is highly suggestive of Canavan disease (aspartoacylase deficiency). Confirmatory molecular genetic testing for ASPA gene mutations should be performed. Genetic counseling for the family is strongly recommended. Referral to a pediatric neurologist and metabolic specialist is advised for ongoing management.

📊

Slightly elevated NAA levels may be seen in heterozygous carriers or in certain atypical metabolic conditions. Repeat testing, confirmatory ASPA gene analysis, and clinical correlation are recommended. Genetic counseling should be offered.

⚠️ When to Consult a Doctor:

Consult a pediatrician, pediatric neurologist, or clinical geneticist immediately if your child exhibits any of the following symptoms: poor head control, abnormal muscle tone (floppy baby), failure to reach developmental milestones, seizures, progressive vision or hearing loss, difficulty feeding or swallowing, or an unusually large head. Additionally, seek genetic counseling if there is a family history of Canavan disease, if both parents are known carriers of ASPA mutations, or if you are of Ashkenazi Jewish descent and planning a family.

Limitations

  • ⚠This test measures urinary NAA levels and serves as a biochemical screening tool; it does not directly detect ASPA gene mutations
  • ⚠Confirmatory molecular genetic testing (ASPA gene sequencing) is recommended following abnormal results
  • ⚠Carrier status cannot be reliably determined through urine NAA levels alone
  • ⚠Results must be interpreted in conjunction with clinical presentation, family history, and neuroimaging findings
  • ⚠Rare atypical variants of Canavan disease may present with mildly elevated or borderline NAA levels

Risks & Considerations

  • ●The urine collection procedure is completely non-invasive and carries no medical risks
  • ●There is a small possibility of a false positive or false negative result; confirmatory testing may be needed
  • ●Emotional impact of results — genetic counseling is recommended before and after testing

Interfering Factors

  • ●Use of preservatives in the urine collection container may interfere with GC-MS analysis
  • ●Delayed sample processing beyond 6 hours at room temperature may affect NAA stability
  • ●Certain medications or metabolic conditions may influence organic acid profiles
  • ●Contaminated or improperly collected urine samples may yield unreliable results

Compare With Similar Tests

TestCanavan Disease TestASPA Gene Sequencing (Molecular Genetic Test)Brain MRIEnzyme Assay (Aspartoacylase Activity)
ComparisonCanavan Disease Test

Frequently Asked Questions

What is Canavan disease?
Canavan disease is a rare autosomal recessive genetic disorder that affects the brain's white matter (myelin). It is caused by mutations in the ASPA gene, which leads to deficiency of the enzyme aspartoacylase. This results in accumulation of N-acetylaspartic acid (NAA) in the brain, causing progressive neurological deterioration. Symptoms typically appear within the first few months of life.
How is Canavan disease inherited?
Canavan disease follows autosomal recessive inheritance. This means both parents must carry a copy of the mutated ASPA gene for a child to be affected. When both parents are carriers, each pregnancy carries a 25% chance of the child being affected, a 50% chance of the child being a carrier, and a 25% chance of the child being completely unaffected. Carrier parents do not show symptoms of the disease.
What does the Canavan Disease Test involve?
The test involves collecting a random urine sample (minimum 5 mL) in a sterile, preservative-free container. The sample is analyzed using Gas Chromatography-Mass Spectrometry (GC-MS) to detect and measure the level of N-acetylaspartic acid (NAA). Elevated NAA levels are suggestive of Canavan disease. The procedure is completely non-invasive and painless.
What sample is required for this test?
A random urine sample of 10 mL (minimum 5 mL) is required. The urine should be collected in a sterile screw-capped container without any preservatives. For infants, a sterile pediatric urine collection bag may be used. The sample should be refrigerated or frozen during transport to the laboratory.
How long does it take to get the results?
Results are typically available within 5 working days from the date the sample is received at the laboratory. You can access your report through the DNA Labs India online patient portal, via email, or through WhatsApp.
What is the cost of the Canavan Disease Test at DNA Labs India?
The Canavan Disease Test is priced at INR 4500 at DNA Labs India. This cost includes home sample collection (available in most major cities across India), laboratory analysis using GC-MS technology, and a digitally delivered pathologist-reviewed report.
Is home sample collection available for this test?
Yes, DNA Labs India offers complimentary home sample collection for the Canavan Disease Test when booked online. This service is available across numerous cities in India including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Ahmedabad, and many more. A trained phlebotomist or collection technician will visit your home at a scheduled time.
Who should get tested for Canavan disease?
This test is recommended for infants or children showing symptoms such as poor head control, abnormal muscle tone, developmental delays, seizures, macrocephaly, or difficulty swallowing. It is also recommended for individuals of Ashkenazi Jewish descent who wish to undergo carrier screening, and for families with a known history of Canavan disease or confirmed ASPA gene carrier status.
What do abnormal results mean?
Significantly elevated urinary NAA levels are highly suggestive of Canavan disease. However, this test is a biochemical screening tool, and abnormal results should be confirmed through molecular genetic testing (ASPA gene sequencing). If results are abnormal, your healthcare provider will recommend confirmatory testing, neuroimaging (brain MRI), and referral to a genetic counselor and pediatric neurologist.
Is there a cure for Canavan disease?
Currently, there is no definitive cure for Canavan disease. Treatment is supportive and focuses on managing symptoms, preventing complications, and improving quality of life. This may include physical therapy, seizure management, nutritional support (including feeding tubes if needed), and regular monitoring. Research into gene therapy and other experimental treatments is ongoing.
Can Canavan disease be detected before birth (prenatally)?
Yes, prenatal testing for Canavan disease is possible. If both parents are known carriers of ASPA gene mutations, prenatal diagnosis can be performed through chorionic villus sampling (CVS) at 10–12 weeks of pregnancy or amniocentesis at 15–18 weeks. Prenatal molecular genetic testing can determine whether the fetus has inherited two copies of the mutated gene. Genetic counseling is strongly recommended before pursuing prenatal testing.
Is genetic counseling recommended before and after testing?
Yes, genetic counseling is strongly recommended both before and after the Canavan Disease Test. A genetic counselor can help you understand the inheritance pattern, the implications of carrier status, the meaning of test results, and the available options for family planning. After testing, a counselor can guide you through next steps, including confirmatory testing, referral to specialists, and long-term care planning if the diagnosis is confirmed.
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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