FRRS1L Gene Dysautonomia, FRRS1L-related NGS Genetic Test
Short Name: FRRS1L Dysautonomia NGS Test
Also known as: FRRS1L gene mutation test, Dysautonomia genetic test, FRRS1L-related NGS gene panel, Autonomic nervous system genetic test
FRRS1L Gene Dysautonomia, FRRS1L-related 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 Reports are generally available within 3 to 4 weeks from the time the sample is received 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 this test is to identify disease-causing mutations in the FRRS1L gene using next-generation sequencing technology, helping to confirm or rule out a genetic aetiology in individuals with symptoms suggestive of dysautonomia.
- Test Code
- 4013
- CPT Code
- Not specified
- ICD Code
- G90.9
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally available within 3 to 4 weeks from the time the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counselling session is required to draw a pedigree chart of family members affected with FRRS1L Gene Dysautonomia or related neurological disorders. Clinical history of the patient must be documented.
Method: Peripheral blood draw or FTA card prick
Laboratory Analysis
Blood sample is collected by venepuncture, or a single drop of blood is placed on an FTA card. The procedure is quick and routine with minimal discomfort.
Report Delivery
The sample is transported to the laboratory for DNA extraction and NGS sequencing. Results are typically available within 3 to 4 weeks. Genetic counselling is recommended after receiving the report.
Timeline: Reports are generally available within 3 to 4 weeks from the time the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify disease-causing mutations in the FRRS1L gene using next-generation sequencing technology, helping to confirm or rule out a genetic aetiology in individuals with symptoms suggestive of dysautonomia.
How to Prepare
- No fasting is required for this test.
- For blood sample: collect in an EDTA vacutainer and mix gently.
- For FTA card: apply one drop of blood onto the designated area and allow it to dry.
- Ensure sample is clearly labelled with patient name and unique identifier.
- Store blood sample at 2-8°C if transport is delayed; FTA cards can be stored at room temperature.
- A valid consent form and genetic counselling documentation are required before testing.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for autonomic disorders such as FRRS1L-related dysautonomia should always be accompanied by pre-test and post-test genetic counselling to help patients and families understand inheritance, implications and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood sample
- Insufficient blood volume for DNA extraction
- Improperly labelled or unaccompanied samples
- FTA cards showing contamination or mould
- Missing consent or genetic counselling documentation
Understanding Your Results
Negative
No pathogenic or likely pathogenic variant was detected in the FRRS1L gene. This does not exclude all genetic causes of dysautonomia.
Positive
A pathogenically likely pathogenic variant in the FRRS1L gene was identified, which may explain the patient's clinical features.
Variant of Uncertain Significance (VUS)
A genetic variant was found, but current evidence is insufficient to determine whether it causes disease. Family segregation studies may be helpful.
Consult a clinical geneticist or your referring specialist if you or a family member experience symptoms suggestive of dysautonomia, if your test result is positive or shows a VUS, or if you need help understanding the inheritance and family implications of the test result.
Limitations
- ⚠NGS may not detect all types of mutations, including large structural rearrangements, repeat expansions, or mitochondrial variants
- ⚠Sensitivity may vary depending on sequencing coverage and bioinformatics methods
- ⚠A variant of uncertain significance (VUS) may require further family testing or functional studies
- ⚠Negative results do not completely exclude a genetic cause for the patient's symptoms
- ⚠Results should always be interpreted in the context of clinical findings, family history, and genetic counselling
Risks & Considerations
- ●Minimal pain or bruising at the blood draw site
- ●Rare risk of local infection
- ●Psychological or emotional stress associated with learning a genetic test result
Interfering Factors
- ●Poor quality or degraded DNA
- ●Contamination of the sample during collection or handling
- ●Incorrect sample labelling or patient identification
- ●Presence of genetic variants in non-coding or deep intronic regions not covered by this test
- ●Large deletions, duplications, or structural rearrangements that may not be reliably detected by NGS alone
Compare With Similar Tests
| Test | FRRS1L Gene Dysautonomia, FRRS1L-related NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | FRRS1L Gene Dysautonomia, FRRS1L-related NGS Genetic Test |
Frequently Asked Questions
What is the FRRS1L gene dysautonomia NGS genetic test?
What sample is needed for the FRRS1L gene dysautonomia test?
Do I need to fast before this test?
How long does it take to get the FRRS1L gene test report?
What does a positive test result mean?
What does a negative test result mean?
What is a variant of uncertain significance (VUS)?
Is genetic counselling required before and after the test?
What is the cost of the FRRS1L-related NGS genetic test in India?
Is home sample collection available for this test?
Will health insurance cover the cost of this genetic test?
Why should I ask for Raw Data, FASTQ, and VCF files with my report?
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