SLC33A1 Gene SPG42 NGS Genetic Test
Short Name: SLC33A1 SPG42 NGS Test
Also known as: SLC33A1 Mutation Test, SPG42 Genetic Test, Hereditary Spastic Paraplegia Type 42 Testing
SLC33A1 Gene SPG42 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 The results are typically available in 3 to 4 weeks after the sample reaches the laboratory. The exact time may vary depending on the sample quality, test complexity, and the need for confirmatory studies.. 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 primary purpose of this NGS genetic test is to detect pathogenic variants in the SLC33A1 gene that cause SPG42, thereby confirming a clinical diagnosis of hereditary spastic paraplegia. Early molecular diagnosis enables prompt initiation of symptomatic therapy, appropriate genetic counselling, carrier testing in family members, and informed family planning decisions.
- Test Code
- 4534
- CPT Code
- 81403
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The results are typically available in 3 to 4 weeks after the sample reaches the laboratory. The exact time may vary depending on the sample quality, test complexity, and the need for confirmatory studies.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Patients should provide a detailed clinical history including symptom onset, neurological examination findings, and any prior relevant investigations. A genetic counselling session will be conducted to draw a pedigree chart of family members affected with susceptibility to SPG42. Please carry previous medical records and imaging reports if available.
Method: Blood draw / FTA card fingerstick / DNA submission
Laboratory Analysis
The sample collection is a simple procedure. For a blood sample, a trained phlebotomist will draw 2-3 ml of peripheral venous blood into an EDTA vacutainer. If using an FTA card, a small drop of blood from a fingerstick will be applied to the card and allowed to dry. For extracted DNA, a minimum of 1 µg of high-quality DNA in a sterile tube is required.
Report Delivery
There are no specific post-collection restrictions. Patients may resume normal activities immediately after sample collection. Reports will be delivered within 3-4 weeks and shared through online portal, email, or WhatsApp. A genetic counsellor will explain the results and discuss the next steps.
Timeline: The results are typically available in 3 to 4 weeks after the sample reaches the laboratory. The exact time may vary depending on the sample quality, test complexity, and the need for confirmatory studies.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to detect pathogenic variants in the SLC33A1 gene that cause SPG42, thereby confirming a clinical diagnosis of hereditary spastic paraplegia. Early molecular diagnosis enables prompt initiation of symptomatic therapy, appropriate genetic counselling, carrier testing in family members, and informed family planning decisions.
How to Prepare
- Blood sample must be collected in an EDTA vacutainer and should not be hemolysed
- FTA card should be completely dried before placing in the return envelope
- Extracted DNA sample should be quantified and shipped in a sterile DNA-safe tube
- Samples should be stored at ambient temperature during transportation and should not be frozen
- Avoid sample contamination by following standard phlebotomy procedures
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counselling is vital for individuals with a family history of hereditary spastic paraplegia. This SLC33A1 gene test not only confirms SPG42 but also helps in carrier detection and informed reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood sample
- Insufficient sample volume
- Improperly labelled sample
- FTA card with less than the required number of blood spots
- DNA sample with high degradation or contamination
Understanding Your Results
No mutation in SLC33A1 gene found. SPG42 is very unlikely, but other hereditary spastic paraplegia genes may be considered.
Result type: Negative (No Pathogenic Variant)
Confirms the diagnosis of SPG42 Hereditary Spastic Paraplegia. Allows for family screening and carrier testing.
Result type: Positive (Pathogenic/Likely Pathogenic Variant)
A genetic variant was identified but its disease association is unclear. Additional family studies or functional analysis may be recommended.
Result type: Variant of Uncertain Significance (VUS)
No disease association; considered normal genetic variation.
Result type: Benign/ Likely Benign Variant
Consult a neurologist or clinical geneticist if you or a family member experiences progressive muscle stiffness, walking difficulty, frequent falls, cognitive decline, or any other symptoms suggestive of hereditary spastic paraplegia. Early genetic testing is recommended for affected individuals and at-risk family members.
Limitations
- ⚠This test does not detect large deletions/duplications involving the entire SLC33A1 gene unless specified with CNV analysis
- ⚠Variants in deep intronic regions or complex structural rearrangements may not be detected
- ⚠It does not identify repeat expansion disorders causing other forms of HSP
- ⚠Results should be interpreted in the context of clinical, neurological, and family history
Risks & Considerations
- ●No significant physical risks; a simple blood draw may cause mild bruising, swelling, or dizziness
- ●Psychological impact of learning a genetic diagnosis
- ●Possible identification of variants of uncertain significance that may require additional testing
- ●Minor risk of sample mix-up or labelling error (mitigated by standard laboratory procedures)
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Presence of large deletion/duplication not covered by standard NGS
- ●Incomplete clinical history leading to misinterpretation
- ●Variants in intronic or regulatory regions not analyzed
Compare With Similar Tests
| Test | SLC33A1 Gene SPG42 NGS Genetic Test | SLC33A1 Gene SPG42 NGS Genetic Test | Hereditary Spastic Paraplegia NGS Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | SLC33A1 Gene SPG42 NGS Genetic Test |
Frequently Asked Questions
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