RARS Gene Leukodystrophy hypomyelinating type 9 NGS Genetic Test
Short Name: RARS Leukodystrophy NGS Test
Also known as: RARS gene leukodystrophy hypomyelinating type 9 genetic test, Leukodystrophy hypomyelinating type 9 NGS panel, RARS1 gene mutation test, HLD9 genetic test
RARS Gene Leukodystrophy hypomyelinating type 9 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 typically available within 3 to 4 weeks after 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 pathogenic or likely pathogenic variants in the RARS1 gene that cause hypomyelinating leukodystrophy type 9. Genetic confirmation supports early diagnosis, prognostic counselling, recurrence-risk assessment and informed family planning decisions.
- Test Code
- 4201
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. The patient or family should be ready to provide clinical history, MRI findings and a three-generation family pedigree. A genetic counselling session is recommended before testing to draw a pedigree chart and explain the implications of genetic testing.
Method: Peripheral blood draw or FTA card spot
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA tube or a single drop of blood on an FTA card. For infants and children, capillary sampling may be used when appropriate. The procedure is quick and associated with minimal discomfort.
Report Delivery
No specific precautions are required after sample collection. The sample is transported to the molecular genetics laboratory for processing. The patient should follow up with the referring doctor or genetic counsellor once the report is available.
Timeline: Reports are typically available within 3 to 4 weeks after 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 pathogenic or likely pathogenic variants in the RARS1 gene that cause hypomyelinating leukodystrophy type 9. Genetic confirmation supports early diagnosis, prognostic counselling, recurrence-risk assessment and informed family planning decisions.
How to Prepare
- No fasting required
- Informed consent and clinical history form to be completed
- Genetic counselling and pedigree construction recommended before testing
- Sample can be collected at home or at a DNA Labs India collection centre
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic confirmation is essential in hypomyelinating leukodystrophy because the clinical features overlap with many other neurodevelopmental and white matter disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted, haemolysed or visibly degraded blood sample
- Mislabelled sample or mismatch with requisition form
- Incomplete clinical history or missing consent
- Sample received in the wrong container
Understanding Your Results
No pathogenic variant detected in RARS1
This does not confirm RARS1-related leukodystrophy. If clinical suspicion remains high, broader genetic testing such as a leukodystrophy panel or whole exome sequencing may be considered.
Pathogenic or likely pathogenic variant identified in RARS1
Confirms the molecular diagnosis of RARS gene leukodystrophy hypomyelinating type 9 in the appropriate clinical context. Genetic counselling and family segregation studies are recommended.
Variant of uncertain significance (VUS) identified in RARS1
The clinical significance is unclear. Additional testing of family members may help determine whether the variant segregates with the disease and clarify its relevance.
Consult a neurologist or clinical geneticist if a child has unexplained developmental delay, hypotonia, seizures, loss of motor skills or MRI evidence of hypomyelination. Also seek genetic counselling before testing and after receiving the results.
Limitations
- ⚠NGS may not reliably detect large structural rearrangements, deep intronic variants or repeat expansions
- ⚠A negative result does not exclude all causes of hypomyelinating leukodystrophy
- ⚠Variants of uncertain significance may require additional family segregation studies
- ⚠This targeted test primarily evaluates the RARS1 gene and is not a comprehensive leukodystrophy panel
Risks & Considerations
- ●Minor pain or bruising at the venipuncture site
- ●No significant clinical risk from the genetic test itself
Interfering Factors
- ●Recent allogeneic stem cell transplantation or blood transfusion may affect DNA analysis
- ●Poor-quality, degraded or clotted samples may reduce test accuracy
- ●Contamination during sample collection or laboratory processing
- ●Incorrect sample labelling or incomplete clinical information
Compare With Similar Tests
| Test | RARS Gene Leukodystrophy hypomyelinating type 9 NGS Genetic Test | ||
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| Comparison | RARS Gene Leukodystrophy hypomyelinating type 9 NGS Genetic Test |
Frequently Asked Questions
What is RARS gene leukodystrophy hypomyelinating type 9?
What symptoms are seen in hypomyelinating leukodystrophy type 9?
What does the RARS1 NGS genetic test detect?
What is the cost of the RARS gene leukodystrophy type 9 NGS test at DNA Labs India?
What sample is needed for this genetic test?
Is fasting required before the test?
How long will the report take?
Is home sample collection available?
Why is DNA Labs India sharing FASTQ and VCF files with the report?
Who should consider this test?
Can this test determine if parents are carriers?
How should the test result be interpreted?
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