LARS2 Gene Perrault syndrome type 4 NGS Genetic Test
Short Name: LARS2 NGS
Also known as: Perrault Syndrome Type 4 Genetic Test, LARS2 Gene Mutation Test, LARS2 NGS Genetic Test
LARS2 Gene Perrault syndrome type 4 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 usually available 3 to 4 weeks after the sample reaches the laboratory. You will receive an SMS or email notification when the report is ready.. 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 primary purpose of this NGS genetic test is to identify clinically significant variants in the LARS2 gene in a patient presenting with features of Perrault syndrome type 4. It also helps to confirm a clinical diagnosis, distinguish LARS2-related disease from other hereditary hearing loss and neurological syndromes, guide surveillance and management, and provide accurate recurrence risk and carrier risk information for family members.
- Test Code
- 4458
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually available 3 to 4 weeks after the sample reaches the laboratory. You will receive an SMS or email notification when the report is ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please carry a valid ID, the completed clinical history form, any audiology or ophthalmology reports, and family pedigree information if available. A pre-test genetic counselling session will be arranged before sample submission.
Method: Venous blood draw or dried blood spot on FTA card
Laboratory Analysis
A trained phlebotomist will collect 2-4 mL of venous blood in an EDTA tube or prepare a dried blood spot on an FTA card. The procedure is quick and takes less than 10 minutes.
Report Delivery
There are no restrictions after sample collection. You may resume your normal activities. Keep your requisition form number to track the status of your report.
Timeline: Reports are usually available 3 to 4 weeks after the sample reaches the laboratory. You will receive an SMS or email notification when the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS genetic test is to identify clinically significant variants in the LARS2 gene in a patient presenting with features of Perrault syndrome type 4. It also helps to confirm a clinical diagnosis, distinguish LARS2-related disease from other hereditary hearing loss and neurological syndromes, guide surveillance and management, and provide accurate recurrence risk and carrier risk information for family members.
How to Prepare
- Sample should be labeled clearly with the patient name, date of birth and collection date
- For home collection, keep the sample kit at room temperature until pickup
- Do not freeze whole blood
- FTA card should be air-dried and protected from moisture and direct sunlight
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Diagnosis of Perrault syndrome type 4 requires combined clinical, audiological, ophthalmological and gynecological evaluation in females. Genetic confirmation helps in family counseling and early surveillance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed EDTA blood sample
- Sample received without proper labeling
- Insufficient DNA quantity or quality for NGS
- Requisition form missing clinical details or patient identifiers
Understanding Your Results
Pathogenic or likely pathogenic variant identified
Consistent with a clinical diagnosis of Perrault syndrome type 4. Confirmatory parental testing is recommended for recurrence risk assessment.
Variant of uncertain significance (VUS) identified
The clinical significance of the variant is unclear. Family segregation studies and further clinical evaluation may help clarify its role.
No pathogenic or likely pathogenic variant identified
Does not exclude LARS2-related Perrault syndrome type 4. Clinical correlation and evaluation of other Perrault syndrome genes or broader exome testing may be considered.
Consult a neurologist, clinical geneticist or gynecologist if you or a family member have early-onset hearing loss, visual failure, ataxia, learning difficulty or premature ovarian insufficiency. Genetic counselling is also recommended before and after genetic testing to understand the results and reproductive implications.
Limitations
- ⚠This test is targeted to the LARS2 gene and does not rule out other genetic causes of Perrault syndrome
- ⚠NGS may not detect all types of mutations, including large deletions/duplications, in every case
- ⚠A negative result does not completely exclude LARS2-related Perrault syndrome type 4
- ⚠Clinical correlation and additional testing are recommended when symptoms are strongly suggestive
- ⚠Results should be interpreted by a qualified clinical geneticist or genetic counsellor
Risks & Considerations
- ●Venipuncture may cause transient pain, bruising or swelling at the puncture site
- ●Fainting or light-headedness during blood collection is uncommon but possible
- ●Genetic test results may have implications for family members; this should be discussed with a genetic counsellor
Interfering Factors
- ●Poor DNA quantity or quality may reduce sequencing coverage
- ●Contamination during sample collection can affect result accuracy
- ●Rare deep intronic variants or large structural rearrangements may not be detected by standard NGS
- ●Variants of uncertain significance may not provide a definitive diagnosis without family studies
Compare With Similar Tests
| Test | LARS2 Gene Perrault syndrome type 4 NGS Genetic Test | |||
|---|---|---|---|---|
| Comparison | LARS2 Gene Perrault syndrome type 4 NGS Genetic Test |
Frequently Asked Questions
What is Perrault syndrome type 4?
What is the LARS2 gene?
Who should consider this test?
What does this NGS genetic test include?
Is fasting required for this test?
What types of samples are accepted?
How long will the report take?
What does a negative result mean?
Can this test identify variants of uncertain significance?
Does this test detect ovarian abnormalities?
Is genetic counselling offered with this test?
Is home sample collection available?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.