PNPLA6 Gene SPG39 NGS Genetic Test
Short Name: PNPLA6 SPG39 NGS
Also known as: SPG39 Genetic Test, PNPLA6 Mutation Analysis, Hereditary Spastic Paraplegia Type 39 NGS Test
PNPLA6 Gene SPG39 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing (for variant confirmation) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Test reports are typically available within 3 to 4 weeks from sample receipt. The turnaround time may vary if additional confirmation testing or genetic counselling is required.. 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 the PNPLA6 Gene SPG39 NGS Genetic Test is to confirm or exclude a clinical diagnosis of Hereditary Spastic Paraplegia Type 39 by identifying pathogenic mutations in the PNPLA6 gene. This test is instrumental in differentiating SPG39 from other hereditary spastic paraplegias and similar neurological conditions, guiding accurate treatment planning, prognosis estimation, and reproductive risk assessment through genetic counselling.
- Test Code
- 4530
- CPT Code
- 81406
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Test reports are typically available within 3 to 4 weeks from sample receipt. The turnaround time may vary if additional confirmation testing or genetic counselling is required.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing (for variant confirmation)
Sample Collection
No special preparation such as fasting is required for this test. However, a pre-test genetic counselling session is mandatory to review the clinical history and draw a family pedigree chart. Please bring any relevant medical records and previous test reports.
Method: Peripheral venipuncture or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect approximately 5 ml of venous blood into an EDTA vacutainer. If an FTA card is used, a single drop of blood is spotted onto the card. For extracted DNA samples, a sterile vial containing the sample should be provided.
Report Delivery
After blood collection, the sample is labeled and stored under appropriate conditions. The sample will be sent to the laboratory within 24 hours. No specific precautions are needed after collection; you can resume normal activities immediately.
Timeline: Test reports are typically available within 3 to 4 weeks from sample receipt. The turnaround time may vary if additional confirmation testing or genetic counselling is required.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PNPLA6 Gene SPG39 NGS Genetic Test is to confirm or exclude a clinical diagnosis of Hereditary Spastic Paraplegia Type 39 by identifying pathogenic mutations in the PNPLA6 gene. This test is instrumental in differentiating SPG39 from other hereditary spastic paraplegias and similar neurological conditions, guiding accurate treatment planning, prognosis estimation, and reproductive risk assessment through genetic counselling.
How to Prepare
- Ensure the EDTA tube is properly labeled with patient name, date of birth, and date/time of collection
- If using an FTA card, let the blood spot air dry completely before placing it in the provided envelope
- Extracted DNA samples should be stored at 2-8°C for short-term transport
- Avoid hemolysis during blood collection as it may affect DNA quality
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for SPG39 is essential for accurate diagnosis, prognosis, and genetic counselling of affected families. NGS technology significantly increases the detection rate of PNPLA6 mutations compared to conventional methods."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample with clotted blood or visible hemolysis
- FTA card with insufficient blood spot
- Improperly labeled or unlabeled sample
- Sample received more than 72 hours after collection without proper storage
- Broken or leaking container
Understanding Your Results
Pathogenic or likely pathogenic variant detected
Confirms the diagnosis of SPG39 in an affected individual. Genetic counselling is recommended for the family to discuss inheritance, recurrence risks, and management options.
Variant of uncertain significance (VUS) detected
The result is inconclusive. Additional familial segregation analysis or functional studies may be required to determine the clinical significance.
No pathogenic variants detected
This does not rule out SPG39 if clinical suspicion is high. Other genetic or acquired causes should be considered. Consultation with a geneticist is advised.
Carrier status (one variant detected in unaffected individual)
The individual is an asymptomatic carrier. This is relevant for reproductive risk assessment and genetic counselling.
Consult a neurologist or clinical geneticist if you or your family members exhibit symptoms suggestive of SPG39, such as progressive gait difficulty, spasticity, muscle weakness, speech problems, or intellectual disability. Early diagnosis can help in planning symptomatic management, surveillance, and genetic counselling.
Limitations
- ⚠NGS may not detect all types of mutations, such as large genomic rearrangements or deep intronic variants
- ⚠Variants of uncertain significance (VUS) may be reported; additional testing may be required
- ⚠Negative results do not completely exclude hereditary spastic paraplegia if another gene is responsible
- ⚠The test is limited to the PNPLA6 gene; other genes for spastic paraplegia are not analyzed unless ordered separately
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the venipuncture site
- ●Rare chance of infection at the needle site (very low)
- ●No long-term health risks associated with this test
- ●Psychological impact of discovering a genetic disorder; genetic counselling is recommended
Interfering Factors
- ●Poor quality or degraded DNA samples
- ●Incomplete clinical information that may affect variant interpretation
- ●Presence of variant(s) of uncertain significance (VUS) which may require additional familial testing
- ●Mutations in non-coding regions not covered by standard NGS panels
- ●Large deletions or duplications that may not be detected by NGS alone
Compare With Similar Tests
| Test | PNPLA6 Gene SPG39 NGS Genetic Test | Targeted PNPLA6 Gene Sequencing | Hereditary Spastic Paraplegia Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | PNPLA6 Gene SPG39 NGS Genetic Test |
Frequently Asked Questions
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Is fasting required before the test?
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