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RARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic Test

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RARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic Test

Short Name: RARS2 Gene PCH6 NGS Test

Also known as: PCH6 Genetic Test, RARS2 Gene Mutation Test, Pontocerebellar Hypoplasia Type 6 DNA Test

RARS2 Gene Pontocerebellar hypoplasia type 6 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 from the date of sample receipt at the laboratory. In case of additional confirmatory testing or family segregation studies, the timeline may extend.. 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

The purpose of this NGS genetic test is to identify pathogenic variants in the RARS2 gene that cause Pontocerebellar hypoplasia type 6. The test helps confirm a clinical diagnosis, supports carrier screening for family members, and guides reproductive decision-making. It is designed for individuals with symptoms suggestive of PCH6, as well as asymptomatic at-risk relatives when a familial mutation is known.

Test Code
4478
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 from the date of sample receipt at the laboratory. In case of additional confirmatory testing or family segregation studies, the timeline may extend.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. No fasting is needed. Please carry any prior clinical notes, imaging reports, or family history details. A genetic counselling session is recommended before testing.

Method: Blood draw or FTA blood spot

Step 2

Laboratory Analysis

A blood sample is collected in an EDTA vacutainer. If an FTA card is used, a few drops of blood from a finger prick are applied to the card and allowed to air-dry completely.

Step 3

Report Delivery

Samples should be transported to the laboratory at ambient temperature. If the blood sample cannot be shipped within 48 hours, it should be refrigerated (do not freeze). FTA cards are stable at room temperature.

Timeline: Reports are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. In case of additional confirmatory testing or family segregation studies, the timeline may extend.

Patient Instructions

1
Before the Test:Please discuss the purpose of the test, its limitations, and possible outcomes with a genetic counselor before providing consent. This helps ensure the test is appropriate for the clinical scenario and that you understand the implications of the results.
2
During the Test:The laboratory will extract DNA from the provided sample and perform next-generation sequencing of the RARS2 gene. The entire process may take several weeks, but the test itself is non-invasive and carries no physical risk beyond routine blood collection.
3
After the Test:Your genetic counselor or doctor will receive the report and arrange for post-test counseling. During this session, the results will be explained in plain language, and any recommended follow-up tests or clinical referrals will be discussed.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic variants in the RARS2 gene that cause Pontocerebellar hypoplasia type 6. The test helps confirm a clinical diagnosis, supports carrier screening for family members, and guides reproductive decision-making. It is designed for individuals with symptoms suggestive of PCH6, as well as asymptomatic at-risk relatives when a familial mutation is known.

How to Prepare

  • Use EDTA tube for whole blood collection (preferably 2-3 ml)
  • Label the sample tube with patient name, date, and ID
  • FTA card should be air-dried for at least 30 minutes before sealing
  • Samples must be shipped at ambient temperature for FTA cards and EDTA blood within 48 hours of collection

Doctor's Notes

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

"Early molecular confirmation of PCH6 is critical to guide supportive care and enable informed reproductive planning for at-risk families. NGS testing for RARS2 provides a definitive diagnosis and allows timely intervention."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube, FTA card, or DNA storage tube
Collection MethodBlood draw or FTA blood spot

Sample Stability

7 days
48 hours
6 months
12 months
Sample Rejection Criteria:
  • Hemolyzed clotted blood sample
  • Frozen whole blood sample
  • Insufficient volume or quantity
  • Wrong container or without proper labeling
  • Sample exposed to extreme heat (above 35°C)

Understanding Your Results

The test report will describe whether any clinically significant variants were detected in the RARS2 gene. Results are interpreted using the ACMG/AMP guidelines. Genetic counselling is recommended to understand the implications of the result.
📊

Positive

A pathogenic or likely pathogenic variant was identified in the RARS2 gene. This confirms the clinical diagnosis of PCH6 in symptomatic individuals.

📊

Negative

No disease-causing variants were detected in the RARS2 gene. This significantly reduces the likelihood of RARS2-related PCH6, but does not exclude other genetic causes.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its association with PCH6 is unclear at this time.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if an infant or child shows developmental delays, poor muscle tone, seizures, or breathing difficulties. A confirmed family history of PCH6 or unexplained pontocerebellar hypoplasia on brain MRI is also an indication for genetic consultation and testing.

Limitations

  • ⚠NGS does not reliably detect large genomic rearrangements, repeat expansions, or mitochondrial heteroplasmy below the limit of detection
  • ⚠Variants of uncertain significance may require additional testing or family studies
  • ⚠This test is not intended for prenatal diagnosis unless specifically arranged
  • ⚠A negative result does not rule out pathogenic variants in non-coding regulatory regions of the RARS2 gene

Risks & Considerations

  • ●Routine blood draw may cause slight pain or bruising at the puncture site
  • ●FTA blood spot (finger prick) may cause minor discomfort
  • ●Test may detect variants of uncertain significance, leading to anxiety or further testing
  • ●Genetic testing may uncover incidental findings that have implications for other family members

Interfering Factors

  • ●Presence of maternal cell contamination in fetal samples
  • ●DNA degradation due to improper sample transport
  • ●Recent blood transfusion (if using whole blood)
  • ●Rare genetic variants affecting NGS primer binding regions

Compare With Similar Tests

TestRARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic Test
ComparisonRARS2 Gene Pontocerebellar hypoplasia type 6 NGS Genetic Test

Frequently Asked Questions

What is Pontocerebellar hypoplasia type 6 (PCH6)?
PCH6 is a rare inherited neurological disorder characterized by underdevelopment of the pons and cerebellum. It is caused by mutations in the RARS2 gene, leading to mitochondrial dysfunction and progressive brain damage. Symptoms usually appear in infancy and include severe developmental delay, hypotonia, seizures, and breathing difficulties.
How is PCH6 inherited?
PCH6 is inherited in an autosomal recessive pattern. This means a child must inherit two mutated copies of the RARS2 gene, one from each parent. Parents are typically asymptomatic carriers.
What is the RARS2 gene?
The RARS2 gene provides instructions for making mitochondrial arginyl-tRNA synthetase, an enzyme needed for protein synthesis inside mitochondria. Mutations in this gene impair mitochondrial energy production, particularly affecting brain cells.
What does the NGS genetic test for RARS2 detect?
This next-generation sequencing test analyzes the entire coding region and intron-exon boundaries of the RARS2 gene. It detects pathogenic mutations, including single nucleotide variants and small insertions/deletions, that may cause PCH6.
Who should consider taking this test?
Individuals showing clinical features of PCH6, such as developmental delay, hypotonia, ataxia, and seizures, as well as those with a family history of PCH6 or a known RARS2 mutation, should consider genetic testing.
What is the cost of the test?
The NGS genetic test for RARS2 gene at DNA Labs India costs Rs 20,000. This includes the genetic test, free home sample collection, and a comprehensive clinical report with raw data files.
What is the turnaround time for the test?
The turnaround time is 3 to 4 weeks from the day the sample reaches our laboratory. In some complex cases, additional time may be required for variant confirmation or family studies.
Do I need to fast before the test?
No fasting is required. The sample can be collected at any time of the day. There are no dietary restrictions before taking the RARS2 gene NGS genetic test.
What sample types are accepted?
We accept whole blood in an EDTA tube, extracted DNA, or one drop of blood spotted on an FTA card. The FTA card is especially convenient for long-distance shipping and home collection.
Will insurance cover the test cost?
Most insurance plans do not cover genetic testing for PCH6. However, coverage depends on your specific policy. We recommend contacting your insurance provider to check for eligibility and reimbursement.
What does a positive test result mean?
A positive result means a disease-causing mutation was found in the RARS2 gene. This confirms the clinical diagnosis of PCH6 in a symptomatic individual and allows for informed family counselling and reproductive planning.
What does a negative test result mean?
A negative result means no pathogenic variant was detected in the RARS2 gene. This significantly reduces the likelihood of RARS2-related PCH6, but does not rule out other genetic causes of pontocerebellar hypoplasia.
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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