RTN2 Gene SPG12 NGS Genetic Test
Short Name: RTN2 SPG12 NGS
Also known as: RTN2 Gene SPG12 NGS Genetic Test, RTN2 Hereditary Spastic Paraplegia Type 12 Genetic Test, RTN2 Mutation Analysis, HSP SPG12 Genetic Test
RTN2 Gene SPG12 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood / Extracted DNA / One Drop Blood on FTA Card samples. Results in Reports are generally issued within 3 to 4 weeks of sample receipt. Some samples may require additional confirmation testing, which could extend this time.. 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
To identify disease-causing sequence variants in the RTN2 gene in individuals with clinical features of hereditary spastic paraplegia type 12, and to support diagnosis, genetic counselling, and family risk assessment.
- Test Code
- 4520
- ICD Code
- G11.4
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / One Drop Blood on FTA Card
- Result Time
- Reports are generally issued within 3 to 4 weeks of sample receipt. Some samples may require additional confirmation testing, which could extend this time.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please maintain hydration. Bring any prior neurology reports, imaging records, and family history details to your appointment.
Method: Peripheral venous blood draw or dried blood spot or DNA submission
Laboratory Analysis
A trained phlebotomist will draw a small amount of blood from your arm. The procedure is quick and completed in a few minutes.
Report Delivery
You can resume your normal routine immediately after sample collection. If you provided an FTA card, the dried blood spot will be prepared by the professional.
Timeline: Reports are generally issued within 3 to 4 weeks of sample receipt. Some samples may require additional confirmation testing, which could extend this time.
Patient Instructions
About This Test
Who Should Get This Test
To identify disease-causing sequence variants in the RTN2 gene in individuals with clinical features of hereditary spastic paraplegia type 12, and to support diagnosis, genetic counselling, and family risk assessment.
How to Prepare
- No special preparation such as fasting is needed.
- Inform the laboratory about any ongoing medications or medical conditions.
- For FTA card collection, a single drop of blood is sufficient.
- Ensure your identity and patient details match the test requisition form.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing should be considered after a detailed neurological evaluation and genetic counselling. A positive RTN2 result confirms SPG12 and can guide family planning and clinical management decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Insufficient quantity of blood or DNA
- Sample received in an incorrect container
- Mislabeled or unlabeled sample
- FTA card contaminated, wet, or damaged
Understanding Your Results
Positive - Pathogenic or likely pathogenic variant found
Molecular diagnosis of RTN2-associated hereditary spastic paraplegia type 12 is confirmed.
Recommendation: Genetic counselling, symptom management, and family member screening are advised.
Negative - No pathogenic variant found
No RTN2 mutation was identified. Other genetic causes of hereditary spastic paraplegia should be considered.
Recommendation: A comprehensive HSP gene panel or whole exome sequencing may be useful if clinical suspicion remains high.
Variant of uncertain significance (VUS)
A DNA change was detected, but its clinical significance is not yet established.
Recommendation: Family segregation studies and additional clinical evaluation are recommended.
If you have progressive lower limb stiffness or weakness, gait disturbances, balance problems, urinary urgency, or a family history of hereditary spastic paraplegia, consult a neurologist or clinical geneticist for evaluation.
Limitations
- ⚠This test is limited to the RTN2 gene and does not fully rule out other genetic causes of hereditary spastic paraplegia.
- ⚠A negative result does not exclude the clinical diagnosis of SPG12 if a mutation cannot be detected by current NGS technology.
- ⚠Variants of uncertain clinical significance may be reported and require further investigation.
- ⚠Genetic counselling is strongly recommended for interpreting results and discussing family implications.
Risks & Considerations
- ●Minor pain or bruising at the blood collection site
- ●Rare risk of infection at the venipuncture site
- ●Psychological or emotional impact of receiving a genetic diagnosis
Interfering Factors
- ●Inadequate sample quantity or poor quality extracted DNA
- ●Contamination during sample collection or processing
- ●Certain non-coding or deep intronic variants may not be covered by standard targeted NGS
- ●Large structural rearrangements or copy number variants may require additional analysis
Compare With Similar Tests
| Test | RTN2 Gene SPG12 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | RTN2 Gene SPG12 NGS Genetic Test |
Frequently Asked Questions
What is RTN2 Gene SPG12 NGS Genetic Test?
What is hereditary spastic paraplegia type 12?
Who should undergo this RTN2 gene test?
What symptoms can indicate RTN2 SPG12?
Which sample is used for this test?
Is home sample collection available?
What is the cost of the test?
How long does it take to get the report?
Will I receive raw data files with my report?
Is genetic counselling included?
Can this test detect all types of HSP?
Is this test covered by health insurance?
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