RNF170 Gene Ataxia, Sensory Type 1, Autosomal Dominant NGS Genetic Test
Short Name: RNF170 Gene Ataxia NGS Test
Also known as: RNF170 Gene Mutation Analysis, Sensory Ataxia Type 1 Genetic Test, Autosomal Dominant Sensory Ataxia NGS Panel, RNF170 Sequencing Test, Hereditary Sensory Ataxia Genetic Screening
RNF170 Gene Ataxia, Sensory Type 1, Autosomal Dominant NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Pipeline Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at 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 the RNF170 Gene Ataxia, Sensory Type 1, Autosomal Dominant NGS Genetic Test is to detect pathogenic mutations in the RNF170 gene that are responsible for autosomal dominant sensory ataxia type 1. This test confirms a clinical diagnosis in symptomatic individuals, identifies carriers within affected families, supports genetic counselling for family planning, enables early detection in at-risk individuals before symptom onset, and guides neurologists in developing personalized management and rehabilitation strategies for patients with hereditary sensory ataxia.
- Test Code
- 1523
- CPT Code
- 81479
- ICD Code
- G60.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Pipeline Analysis
Sample Collection
A genetic counselling session is recommended before sample collection to document the patient's clinical history, family pedigree, and symptoms. No fasting is required. Inform the laboratory of any recent blood transfusions or ongoing treatments.
Method: Venipuncture
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer. Alternatively, a drop of blood may be applied to an FTA card. The procedure takes approximately 5-10 minutes.
Report Delivery
Apply pressure to the puncture site with a cotton ball for 3-5 minutes. The sample is transported to the laboratory under ambient room temperature. Results will be available within 3 to 4 weeks.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RNF170 Gene Ataxia, Sensory Type 1, Autosomal Dominant NGS Genetic Test is to detect pathogenic mutations in the RNF170 gene that are responsible for autosomal dominant sensory ataxia type 1. This test confirms a clinical diagnosis in symptomatic individuals, identifies carriers within affected families, supports genetic counselling for family planning, enables early detection in at-risk individuals before symptom onset, and guides neurologists in developing personalized management and rehabilitation strategies for patients with hereditary sensory ataxia.
How to Prepare
- No fasting or special preparation is required prior to sample collection
- Carry a valid government-issued photo ID and the doctor's prescription
- Provide a detailed family history and clinical records at the time of sample collection
- Blood sample should be collected in an EDTA (purple top) vacutainer
- If using FTA card, ensure the blood spot is fully dried before packaging
- Store and transport the sample at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Sensory ataxia due to RNF170 gene mutations presents with progressive loss of proprioception and coordination difficulties. Early genetic diagnosis through NGS allows for timely symptomatic management, genetic counselling, and family screening. Patients with a family history of autosomal dominant ataxia should consider this test to confirm the molecular diagnosis and guide long-term neurological care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Samples collected in incorrect anticoagulant (non-EDTA tubes)
- Insufficient sample volume (less than 2 mL)
- Samples without proper labeling or identification
- Contaminated FTA cards or improperly stored samples
Understanding Your Results
Confirms a diagnosis of autosomal dominant sensory ataxia type 1 due to RNF170 gene mutation. Genetic counselling and family screening are strongly recommended.
Strong evidence supporting association with sensory ataxia type 1. Clinical correlation and follow-up genetic counselling are recommended.
A genetic variant was detected but current evidence is insufficient to classify it as pathogenic or benign. Clinical correlation and periodic reclassification are advised.
The detected variant is unlikely to be associated with sensory ataxia type 1. No immediate clinical action required.
No disease-causing mutations were identified in the RNF170 gene. This does not entirely exclude the possibility of sensory ataxia caused by mutations in other genes. Clinical follow-up and additional genetic testing may be considered.
Consult a neurologist or clinical geneticist if you experience progressive loss of balance or coordination, unexplained numbness or tingling in your hands or feet, difficulty walking or abnormal gait, loss of proprioception (inability to sense limb position), difficulty swallowing or speaking, or if you have a family history of inherited ataxia or sensory neuropathy. Early consultation can facilitate timely genetic testing and appropriate management.
Limitations
- ⚠This test does not detect large chromosomal rearrangements or trisomy-level changes
- ⚠Variants of uncertain significance (VUS) may be identified and may require further investigation
- ⚠Deep intronic or regulatory region mutations outside the targeted sequencing area may not be detected
- ⚠Results should always be correlated with clinical findings and family history by a qualified geneticist or neurologist
- ⚠This test does not screen for mutations in other ataxia-associated genes
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Slight risk of infection at the puncture site (very rare)
- ●Possible identification of variants of uncertain significance (VUS) which may cause anxiety
- ●Psychological impact of a positive result on the patient and family members
Interfering Factors
- ●Degraded or insufficient DNA quality from the sample
- ●Recent blood transfusion within the past 30 days may affect results
- ●Sample contamination during collection or transport
- ●Hemolyzed blood samples may impact DNA extraction quality
Compare With Similar Tests
| Test | RNF170 Gene Ataxia, Sensory Type 1, Autosomal Dominant NGS Genetic Test | Spinocerebellar Ataxia (SCA) Panel | Comprehensive Ataxia NGS Panel | Whole Exome Sequencing (WES) | Friedreich Ataxia Genetic Test | Charcot-Marie-Tooth (CMT) Gene Panel |
|---|---|---|---|---|---|---|
| Comparison | RNF170 Gene Ataxia, Sensory Type 1, Autosomal Dominant NGS Genetic Test |
Frequently Asked Questions
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