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BCS1L Gene GRACILE syndrome NGS Genetic Test

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BCS1L Gene GRACILE syndrome NGS Genetic Test

Short Name: GRACILE Syndrome NGS Test

Also known as: GRACILE Syndrome, BCS1L-related disorder

BCS1L Gene GRACILE syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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.

NGS Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect mutations in the BCS1L gene for diagnosis of GRACILE syndrome, enabling early intervention and genetic counseling.

Test Code
2736
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
NGS, Next-Generation Sequencing
Step 1

Sample Collection

No special preparation required. Provide clinical history and undergo genetic counseling.

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using sterile equipment.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling session to draw a pedigree chart.
2
During the Test:Blood sample collection and NGS analysis performed in the laboratory.
3
After the Test:Results are reviewed by geneticists and reported with interpretation.

About This Test

Who Should Get This Test

To detect mutations in the BCS1L gene for diagnosis of GRACILE syndrome, enabling early intervention and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection tubes
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for GRACILE syndrome is crucial for timely management, genetic counseling, and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: 48 hours at room temperature
Extracted DNA: stable for years if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the BCS1L gene associated with GRACILE syndrome.
📊

Positive

Pathogenic mutation detected, consistent with GRACILE syndrome. Consult a geneticist for management.

📊

Negative

No pathogenic variants detected. Clinical correlation may be needed.

⚠️ When to Consult a Doctor:

If the test is positive, consult a geneticist or pediatrician for management and genetic counseling. If negative but symptoms persist, further evaluation may be needed.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection
  • ●Emotional impact of results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Compare With Similar Tests

TestBCS1L Gene GRACILE syndrome NGS Genetic TestSanger SequencingWhole Exome Sequencing
ComparisonBCS1L Gene GRACILE syndrome NGS Genetic TestNGS is more comprehensive for detecting multiple mutations in a single test.This test is targeted for BCS1L gene, making it more cost-effective for GRACILE syndrome.

Frequently Asked Questions

What is GRACILE syndrome?
GRACILE syndrome is a rare autosomal recessive mitochondrial disorder caused by mutations in the BCS1L gene, characterized by growth retardation, liver dysfunction, and muscle weakness.
What causes GRACILE syndrome?
It is caused by mutations in the BCS1L gene, which disrupts mitochondrial function and energy production.
What are the symptoms of GRACILE syndrome?
Symptoms include growth retardation, liver dysfunction, muscle weakness, respiratory distress, and high blood lactate levels.
How is GRACILE syndrome diagnosed?
Diagnosis involves physical examination and genetic testing, specifically NGS Genetic Test to detect BCS1L gene mutations.
What is the BCS1L Gene NGS Genetic Test?
It is a next-generation sequencing test that accurately detects mutations in the BCS1L gene associated with GRACILE syndrome.
How accurate is the NGS Genetic Test for GRACILE syndrome?
The test is highly accurate and can detect small genetic changes that might be missed by other methods.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card is required.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks.
What is the cost of the test?
The cost is INR 20000, with home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in many cities across India.
What should I do if the test is positive?
If positive, consult a geneticist or pediatrician for management, genetic counseling, and family planning.
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.

LIMS Integration

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.

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