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HARS2 Gene Perrault syndrome type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

HARS2 Gene Perrault syndrome type 2 NGS Genetic Test

Short Name: HARS2 NGS

Also known as: HARS2 Gene Sequencing, Perrault Syndrome Type 2 Genetic Test, HARS2 NGS Genetic Test

HARS2 Gene Perrault syndrome type 2 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 issued within 3 to 4 weeks after the sample reaches the laboratory and all clinical details are received.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect pathogenic variants in the HARS2 gene using Next Generation Sequencing technology for the molecular confirmation of Perrault syndrome type 2.

Test Code
4461
CPT Code
Not Provided
ICD Code
Not Provided
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks after the sample reaches the laboratory and all clinical details are received.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Please carry previous medical records, audiology, neurology, and gynecology reports if available. A genetic counselor will discuss clinical history and draw a pedigree chart of affected family members.

Method: Peripheral blood draw / FTA card blood spot / extracted DNA submission

Step 2

Laboratory Analysis

A blood sample or FTA card sample will be collected by a trained phlebotomist. The procedure is quick and does not require anesthesia.

Step 3

Report Delivery

No specific aftercare is required. You can resume normal activities. The laboratory will process the sample and share the report within 3 to 4 weeks.

Timeline: Reports are issued within 3 to 4 weeks after the sample reaches the laboratory and all clinical details are received.

Patient Instructions

1
Before the Test:No fasting is required. A genetic counseling session and family pedigree review are recommended before testing. The clinician should provide relevant clinical details such as audiology, gynecology, and neurology findings.
2
During the Test:A trained professional will collect the sample. For blood, a small amount will be drawn from a vein. For FTA card, one drop of blood is placed on the card. For extracted DNA, the sample is submitted in a sterile tube.
3
After the Test:No restrictions are needed after sample collection. The report will be delivered within 3 to 4 weeks. Discuss the result with the referring doctor and a genetic counselor.

About This Test

Who Should Get This Test

To detect pathogenic variants in the HARS2 gene using Next Generation Sequencing technology for the molecular confirmation of Perrault syndrome type 2.

How to Prepare

  • No fasting is required for this genetic test
  • Valid government ID proof is required at the time of sample collection
  • Informed consent must be signed before sample collection
  • If using FTA card, follow the card instructions for air-drying and packaging

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"In females with sensorineural hearing loss and features suggestive of primary ovarian insufficiency, HARS2 genetic testing can help establish the diagnosis and enable informed reproductive planning and family counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerBlood collection tube or DNA submission vial or FTA card
Collection MethodPeripheral blood draw / FTA card blood spot / extracted DNA submission

Sample Stability

Room temperature
2-8°C or -20°C
Ambient temperature
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Sample without proper labelling
  • Damaged FTA card
  • Incomplete patient information or consent documentation
  • Sample received after prolonged transport without appropriate conditions

Understanding Your Results

The clinical laboratory report classifies detected variants according to standard international guidelines. Results should always be interpreted by a clinical geneticist in the context of clinical findings, family history, and pretest probability.
📊

Pathogenic or likely pathogenic variant in HARS2

Consistent with molecular diagnosis of Perrault syndrome type 2 in the appropriate clinical context.

Action: Clinical correlation and genetic counseling are recommended. Family member testing and reproductive planning may be discussed.

📊

No pathogenic variant detected

No disease-causing variant was found in the HARS2 gene in this sample.

Action: Further genetic or clinical evaluation may be needed if clinical suspicion remains high.

📊

Variant of uncertain significance (VUS)

A genetic change was found, but its clinical significance is not yet clearly known.

Action: Additional family segregation studies and clinical correlation may be required before making a diagnosis.

⚠️ When to Consult a Doctor:

Consult a geneticist, neurologist, gynecologist, or genetic counselor if you have hearing loss with ovarian dysfunction, neurological symptoms such as ataxia or muscle weakness, or a known family history of Perrault syndrome.

Limitations

  • ⚠NGS may not detect all types of mutations, such as deep intronic variants, large deletions, or structural variants
  • ⚠A variant of uncertain significance may require further testing of family members
  • ⚠A negative result does not exclude all genetic or non-genetic causes of the clinical phenotype
  • ⚠Clinical correlation and genetic counseling are necessary for correct interpretation

Risks & Considerations

  • ●Minimal discomfort or bruising at the needle site
  • ●Anxiety while waiting for the result
  • ●Psychological impact of a positive result or variant of uncertain significance
  • ●Possibility of incidental findings when broader genomic analysis is performed

Interfering Factors

  • ●Improper sample storage leading to DNA degradation
  • ●Insufficient extracted DNA quantity
  • ●Sample contamination or sample mix-up
  • ●Variant of uncertain significance requiring additional family studies
  • ●Large structural rearrangements that may not be detected by standard NGS variant calling

Compare With Similar Tests

TestHARS2 Gene Perrault syndrome type 2 NGS Genetic TestHARS2 Sanger SequencingHereditary hearing loss NGS panelWhole Exome Sequencing
ComparisonHARS2 Gene Perrault syndrome type 2 NGS Genetic Test

Frequently Asked Questions

What is Perrault syndrome type 2?
Perrault syndrome is a rare genetic disorder. Type 2 is caused by mutations in the HARS2 gene. It typically causes sensorineural hearing loss and, in females, ovarian dysfunction. Some affected individuals may also have neurological features such as ataxia and peripheral neuropathy.
What does the HARS2 gene do?
HARS2 gives instructions for making histidyl-tRNA synthetase, an enzyme needed for protein production. Pathogenic variants in HARS2 impair this function and can lead to Perrault syndrome type 2.
Why is NGS used for this test?
NGS can sequence HARS2 with high accuracy and can also be expanded to multiple genes if needed. It is efficient and cost-effective for genetic diagnosis.
Who should take the HARS2 Perrault syndrome type 2 NGS test?
People with clinical features such as hearing loss with ovarian dysfunction, neurological symptoms, or a family history of Perrault syndrome may be considered for testing after genetic counseling.
Can males undergo this test?
Yes. Perrault syndrome affects both males and females. Males may be tested when clinical or family history suggests HARS2-related Perrault syndrome.
What sample is required?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card. The exact requirement will be shared at the time of booking.
Does this test require fasting?
No, fasting is not generally required for this NGS genetic test.
How long does the test take?
The report is issued within 3 to 4 weeks after the sample reaches the laboratory.
What is the cost of the test?
The test is available at INR 20,000. Free home sample collection is offered for online bookings in select cities.
Will I receive the raw data?
DNA Labs India shares raw data, FASTQ, and VCF files along with the clinical report for this test. You should ask for these files with your report.
What do negative or uncertain results mean?
A negative result means no pathogenic variant was detected in HARS2. A variant of uncertain significance may be reported; it requires additional family testing and clinical correlation before a diagnosis can be confirmed.
Should I get genetic counseling?
Yes. Genetic counseling is recommended before and after testing to understand the implications, inheritance, and reproductive risks. It is part of the pre-test process.
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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✓ 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.

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