PLA2G6 Gene Infantile neuroaxonal dystrophy type 1 NGS Genetic Test
Short Name: PLA2G6 NGS (INAD Type 1)
Also known as: INAD Type 1 Genetic Test, PLA2G6 Gene Mutation Analysis, NGS for PLA2G6-associated Neurodegeneration
PLA2G6 Gene Infantile neuroaxonal dystrophy type 1 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 Reports are issued in 3 to 4 weeks after the sample reaches the laboratory.. 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 confirm or rule out Infantile Neuroaxonal Dystrophy type 1 caused by mutations in the PLA2G6 gene. It is indicated when a child presents with developmental regression, neurological deterioration, or imaging features suggestive of neuroaxonal dystrophy. The test also helps identify carriers in at-risk families and supports reproductive counselling.
- Test Code
- 4150
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued in 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. Please carry clinical notes, previous imaging reports and referral if available. Genetic counselling and informed consent are recommended before genetic testing.
Method: Venipuncture / FTA card blood spot / Extracted DNA submission
Laboratory Analysis
Sample collection is quick. For blood, a small volume is collected in an EDTA vacutainer. For FTA card, one drop of blood is placed on the card and allowed to dry. Extracted DNA sample can be submitted directly.
Report Delivery
You can resume normal activities immediately after sample collection. The sample is transported to the laboratory under controlled conditions. Reports will be delivered in 3 to 4 weeks.
Timeline: Reports are issued in 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or rule out Infantile Neuroaxonal Dystrophy type 1 caused by mutations in the PLA2G6 gene. It is indicated when a child presents with developmental regression, neurological deterioration, or imaging features suggestive of neuroaxonal dystrophy. The test also helps identify carriers in at-risk families and supports reproductive counselling.
How to Prepare
- A trained phlebotomist will collect the sample at home or at a partner collection centre
- FTA card blood must be air-dried before packaging
- Label the sample with the patient's full name, date and time of collection
- Transport blood samples in a cold pack; FTA card samples may be sent at ambient temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic confirmation of a PLA2G6 mutation allows timely referral to paediatric neurology, supportive therapy, and accurate recurrence risk counselling for parents."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood sample
- Mislabelled sample or missing consent form
- Insufficient sample volume or poor DNA yield
- Sample received in inappropriate transport conditions after significant delay
Understanding Your Results
Positive: two pathogenic/likely pathogenic PLA2G6 variants detected
Confirms the diagnosis of autosomal recessive INAD type 1 when clinical features are consistent
Carrier: one pathogenic/likely pathogenic PLA2G6 variant detected
Individual is an asymptomatic carrier; at-risk family members may benefit from genetic counselling
Negative: no pathogenic/likely pathogenic variant detected
Does not exclude INAD if clinical suspicion is high; further genetic or metabolic evaluation may be needed
Variant of Uncertain Significance (VUS) detected
Requires additional family studies, functional evidence and clinical correlation before diagnosis
Consult a paediatric neurologist or clinical geneticist if a child has developmental delay, loss of milestones, hypotonia, movement abnormalities, or a family history of autosomal recessive neurological disease.
Limitations
- ⚠NGS may not detect large structural rearrangements, deep intronic variants, or mosaic variants
- ⚠A variant of uncertain significance may require additional family segregation studies
- ⚠This test does not evaluate all genes associated with infantile neuroaxonal dystrophy-like presentations
- ⚠Genetic test results should be correlated with clinical and radiological findings
Risks & Considerations
- ●Minimal transient discomfort or bruising at the venipuncture site
- ●Rare risk of vasovagal reaction during blood collection
- ●No significant medical risk is associated with this genetic test
Interfering Factors
- ●Poor DNA quality or quantity due to improper sample storage
- ●Sample mix-up or mislabelling
- ●Recent allogeneic bone marrow transplant may alter blood-derived DNA results
- ●Incomplete clinical information may affect variant interpretation
Compare With Similar Tests
| Test | PLA2G6 Gene Infantile neuroaxonal dystrophy type 1 NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | PLA2G6 Gene Infantile neuroaxonal dystrophy type 1 NGS Genetic Test |
Frequently Asked Questions
What is the cost of the PLA2G6 INAD type 1 NGS genetic test at DNA Labs India?
What is Infantile Neuroaxonal Dystrophy type 1?
Which sample is needed for this test?
Do I need to fast before sample collection?
Which technology is used for this test?
How long will the reports take?
Does DNA Labs India share raw data files?
Can this test identify carriers of PLA2G6 mutations?
Is genetic counselling recommended before or after this test?
Who should be tested for INAD type 1?
Does NGS detect all types of mutations in PLA2G6?
Is home sample collection available for this test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.