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QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic Test

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QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic Test

Short Name: QARS1 Microcephaly NGS Test

Also known as: QARS1-related microcephaly, Progressive microcephaly with seizures

QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

PediatricsChildren🏠 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 test is to detect mutations in the QARS1 gene associated with progressive microcephaly, seizures, and cerebral and cerebellar atrophy, aiding in accurate diagnosis, management, and genetic counseling.

Test Code
2772
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications and draw a family pedigree chart.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation and delivery, followed by consultation to discuss results.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the QARS1 gene associated with progressive microcephaly, seizures, and cerebral and cerebellar atrophy, aiding in accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure sample is labeled correctly with patient details
  • Use appropriate collection tubes as specified
  • Transport sample at ambient room temperature

Doctor's Notes

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

"As a referring specialist, I recommend this test for children with suspected genetic microcephaly to guide management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 48 hours at room temperature
Extracted DNA stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the QARS1 gene, which are associated with microcephaly and related symptoms.
Positive: Pathogenic variant detected, consistent with diagnosis of QARS1 gene microcephaly
Negative: No pathogenic variants detected, but clinical correlation is needed
Variant of uncertain significance: Further testing or family studies may be recommended
⚠️ When to Consult a Doctor:

If the test result is positive or if symptoms persist despite negative results, consult a geneticist or pediatric neurologist for further evaluation and management.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Variants of uncertain significance may be identified
  • ⚠Does not rule out other genetic conditions

Risks & Considerations

  • ●Minimal risks from blood draw, such as bruising or infection
  • ●Psychological impact of test results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Frequently Asked Questions

What is QARS1 Gene Microcephaly?
It is a rare genetic disorder caused by mutations in the QARS1 gene, leading to progressive microcephaly, seizures, and brain atrophy.
What are the common symptoms?
Symptoms include small head size, intellectual disability, seizures, delayed development, muscle weakness, and abnormal eye movements.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the QARS1 gene from a blood or DNA sample.
What is the cost of the test in India?
The cost is INR 20,000, with free home sample collection available across India.
Is home collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Some insurance providers may cover the cost; it is advisable to check with your provider.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, such as bruising or discomfort.
How accurate is the NGS genetic test?
NGS is highly accurate for detecting mutations, but results should be interpreted in clinical context.
Can the test be done for adults?
While primarily for pediatric cases, adults with symptoms may also undergo testing after consultation.
What should I do after receiving results?
Consult a healthcare professional or geneticist to understand results and discuss management options.
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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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.

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