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RUBCN Gene Salih ataxia NGS Genetic Test

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RUBCN Gene Salih ataxia NGS Genetic Test

Short Name: Salih Ataxia NGS

Also known as: Salih Ataxia Genetic Test, RUBCN Gene Sequencing, NGS for Inherited Ataxia

RUBCN Gene Salih ataxia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One Drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To identify disease-causing variants in the RUBCN gene and confirm a diagnosis of Salih ataxia.

Test Code
4491
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One Drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. A genetic counselling session may be scheduled to obtain family history and informed consent.

Method: Blood draw or FTA card

Step 2

Laboratory Analysis

A blood sample is drawn from a vein or a few drops of blood may be collected on an FTA card.

Step 3

Report Delivery

The sample is sent to the laboratory for NGS analysis. Results are available in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation is required. Provide medical history and family pedigree to the genetic counsellor.
2
During the Test:A small blood sample is collected. The procedure takes less than 10 minutes.
3
After the Test:You may resume normal activities immediately. The lab will process your sample and report results in 3-4 weeks.

About This Test

Who Should Get This Test

To identify disease-causing variants in the RUBCN gene and confirm a diagnosis of Salih ataxia.

How to Prepare

  • No fasting is required
  • Wear comfortable clothing to allow easy access to the arm for blood collection
  • Provide accurate clinical and family history information

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Early genetic diagnosis is critical for families with a history of inherited ataxia. This test enables accurate risk assessment and informed family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One Drop Blood on FTA Card
Collection MethodBlood draw or FTA card

Sample Stability

Blood samples stable for up to 7 days at 2-8°C
Extracted DNA stable for several months at -20°C
FTA card samples stable at room temperature for up to 6 months
Sample Rejection Criteria:
  • Haemolysed blood sample
  • Incorrectly labelled sample
  • Clotted blood without anticoagulant
  • Sample received in inappropriate container

Understanding Your Results

This test identifies pathogenic variants in the RUBCN gene. A negative result does not exclude the presence of variants not detectable by NGS.
Positive result: A pathogenic or likely pathogenic variant was found, confirming the clinical diagnosis of Salih ataxia.
Negative result: No pathogenic variants were identified. Clinical suspicion may still warrant testing for other ataxia genes.
Variant of uncertain significance (VUS): A genetic variant was found but its clinical significance is unknown. Additional family studies or functional studies may be needed.
⚠️ When to Consult a Doctor:

If symptoms of ataxia are present or if there is a family history of Salih ataxia, consult a neurologist or geneticist.

Limitations

  • ⚠NGS may not detect large deletions, duplications, or repeat expansions
  • ⚠Variants in non-coding regulatory regions may not be covered
  • ⚠This test only analyzes the RUBCN gene and does not screen for other ataxia-related genes
  • ⚠Results should be interpreted in the context of clinical findings

Risks & Considerations

  • ●Mild bruising at the blood draw site
  • ●Rare risk of infection or bleeding
  • ●Psychological impact of receiving genetic results

Interfering Factors

  • ●Contamination during sample collection
  • ●Incorrect sample storage or transport
  • ●Recent blood transfusion may affect DNA analysis
  • ●Test performed during acute illness may yield suboptimal results

Compare With Similar Tests

TestRUBCN Gene Salih ataxia NGS Genetic TestTargeted Single Gene SequencingMulti-Gene Ataxia PanelWhole Exome Sequencing
ComparisonRUBCN Gene Salih ataxia NGS Genetic Test

Frequently Asked Questions

What is Salih ataxia?
Salih ataxia is a rare inherited neurological disorder affecting coordination and movement, caused by mutations in the RUBCN gene.
What is the RUBCN gene?
The RUBCN gene provides instructions for a protein involved in autophagy, cellular waste removal, and maintaining neuronal health.
How is the RUBCN Gene Salih Ataxia NGS Genetic Test performed?
The test uses next-generation sequencing to read the DNA sequence of the RUBCN gene and identify pathogenic variants.
What sample is required for the test?
A blood sample or one drop of blood on an FTA card is accepted. Extracted DNA may also be submitted.
Is fasting required for this test?
No, fasting is not required for this genetic test.
How long does it take to get the reports?
Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
What is the cost of the test?
The total cost at DNA Labs India is INR 20,000, which includes the test and genetic counselling.
Does the test include genetic counselling?
Yes, a qualified genetic counsellor will explain the results and their implications after testing.
How accurate is the NGS-based test?
NGS is highly accurate for detecting single-nucleotide variants and small insertions/deletions in the analyzed gene.
Can I get raw data with my report?
Yes, DNA Labs India provides raw data files (FASTQ and VCF) along with the clinical report for full transparency.
Are there any risks associated with genetic testing?
The physical risks are minimal and limited to the blood draw. Psychological and social implications should be discussed with a counsellor.
What should I do if the result is positive?
Consult a neurologist and genetic counsellor to plan management, assess family risk, and consider testing of relatives.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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.

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✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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