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BRAT1 Gene Neurodevelopmental disorder with cerebellar atrophy and with or without seizures NGS Genetic Test

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BRAT1 Gene Neurodevelopmental disorder with cerebellar atrophy and with or without seizures NGS Genetic Test

Short Name: BRAT1 NGS Genetic Test

Also known as: BRAT1 Gene Sequencing, BRAT1 Mutation Analysis, Cerebellar Atrophy Neurodevelopmental Disorder Genetic Test

BRAT1 Gene Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 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 after sample receipt.. 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 identify pathogenic variants in the BRAT1 gene to confirm a diagnosis of neurodevelopmental disorder with cerebellar atrophy and with or without seizures, assist in clinical management, and provide genetic counseling.

Test Code
4402
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. A genetic counselling session is recommended to discuss the implications of the test.

Method: Peripheral blood draw or finger prick

Step 2

Laboratory Analysis

A small blood sample is collected by a trained phlebotomist. For FTA card, a finger prick blood spot is taken.

Step 3

Report Delivery

The sample is transported to the laboratory in ambient conditions. Results will be available in 3-4 weeks.

Timeline: 3 to 4 weeks after sample receipt.

Patient Instructions

1
Before the Test:Discuss the test with your doctor and understand the implications. Provide family history and medical records.
2
During the Test:The test involves a simple blood collection or FTA card sample.
3
After the Test:Receive a detailed report and genetic counselling to understand results and next steps.

About This Test

Who Should Get This Test

To identify pathogenic variants in the BRAT1 gene to confirm a diagnosis of neurodevelopmental disorder with cerebellar atrophy and with or without seizures, assist in clinical management, and provide genetic counseling.

How to Prepare

  • Submit the duly filled requisition form with patient details
  • Ensure the FTA card is air-dried and stored in the provided envelope
  • Blood sample should be collected in an EDTA vacutainer and mixed well

Doctor's Notes

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

"Early genetic diagnosis of BRAT1-related disorder is vital for guiding prognosis and family planning. This test provides definitive results for clinical management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral blood draw or finger prick

Sample Stability

Whole blood (EDTA): 72 hours at room temperature
FTA card: stable for several months at room temperature
Extracted DNA: 1-2 weeks at 2-8°C
Sample Rejection Criteria:
  • Clotted blood sample
  • Hemolyzed sample
  • Incorrectly labeled sample
  • Insufficient quantity

Understanding Your Results

Interpretation of BRAT1 genetic test results should be performed by a clinical geneticist. A pathogenic variant in the BRAT1 gene confirms the diagnosis.
📊

Positive

A pathogenic or likely pathogenic variant in the BRAT1 gene confirms the diagnosis.

📊

Negative

No pathogenic variant identified; does not rule out other genetic causes.

📊

VUS

Variant of uncertain significance; additional testing and family segregation analysis may be needed.

⚠️ When to Consult a Doctor:

If you have concerns about your child's development, seizures, or coordination, or if genetic testing has been recommended by a neurologist.

Limitations

  • ⚠This test analyzes only the BRAT1 gene; negative results do not exclude other genetic causes.
  • ⚠Variants of uncertain significance may be reported; further studies are sometimes required.

Risks & Considerations

  • ●Minor pain or bruising at the blood draw site
  • ●Rare risk of fainting during blood collection

Interfering Factors

  • ●Quality of extracted DNA
  • ●Insufficient sample quantity
  • ●Coexisting genetic variants of uncertain significance

Frequently Asked Questions

What is BRAT1 gene neurodevelopmental disorder?
It is a rare genetic condition caused by mutations in the BRAT1 gene, leading to impaired brain development, particularly affecting the cerebellum. Symptoms include ataxia, hypotonia, intellectual disability, and sometimes seizures.
What are the symptoms of this disorder?
Symptoms vary but commonly include lack of coordination, low muscle tone, speech difficulties, intellectual disability, and seizures in some children. Progressive cerebellar atrophy is visible on brain imaging.
How is BRAT1 gene neurodevelopmental disorder diagnosed?
Diagnosis is confirmed by genetic testing. NGS genetic testing detects mutations in the BRAT1 gene. Additional tests such as brain imaging and developmental assessments help evaluate the condition.
What is the cost of the BRAT1 NGS genetic test?
In India, the cost is approximately Rs 20,000 at DNA Labs India. However, prices may vary by provider, so it is advisable to confirm before booking.
What sample is required for the test?
The sample can be blood, extracted DNA, or one drop of blood on an FTA card. A blood sample is typically collected in an EDTA tube.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks from sample receipt.
What do the test results mean?
A positive result indicates a pathogenic variant in the BRAT1 gene, confirming the diagnosis. A negative result means no pathogenic variant was found, but other causes may still be considered.
Is any special preparation needed before the test?
No special preparation like fasting is required. However, a genetic counselling session is recommended to discuss the family history and implications of the test.
Can this test be performed during pregnancy?
Yes, if a family has a known BRAT1 mutation, prenatal diagnosis can be performed using samples from amniocentesis or chorionic villus sampling after genetic counselling.
Is home sample collection available?
DNA Labs India offers free home sample collection for online bookings across multiple cities in India for this test.
Is there a cure for this disorder?
Currently, there is no cure. Treatment focuses on managing symptoms with physical therapy, speech therapy, and medication to control seizures and improve quality of life.
Who should undergo this genetic test?
Individuals with clinical features suggestive of the disorder, particularly children with unexplained ataxia, hypotonia, developmental delay, seizures, or brain imaging showing cerebellar atrophy, and those with a family history.
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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