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BCS1L Gene Bjornstad syndrome NGS Genetic Test

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BCS1L Gene Bjornstad syndrome NGS Genetic Test

Also known as: Bjornstad Syndrome NGS Test, BCS1L Gene Test

BCS1L Gene Bjornstad syndrome 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.

Next-Generation Sequencing (NGS)Pediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Bjornstad syndrome by identifying mutations in the BCS1L gene using NGS technology.

Test Code
5676
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

Clinical History of Patient who is going for BCS1L Gene Bjornstad syndrome NGS Genetic Test. A Genetic Counselling session to draw a pedigree chart of family members affected with BCS1L Gene Bjornstad syndrome NGS Genetic Test gene BCS1L

Step 2

Laboratory Analysis

Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and pedigree analysis recommended.
2
During the Test:Sample collection via blood draw or FTA card.
3
After the Test:Results available in 3-4 weeks; follow-up with genetic counselor.

About This Test

Who Should Get This Test

To diagnose Bjornstad syndrome by identifying mutations in the BCS1L gene using NGS technology.

How to Prepare

  • Collect blood sample in EDTA tube or use FTA card
  • Ensure proper labeling and transport

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Understanding Your Results

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

Pathogenic variant detected

Diagnosis of Bjornstad syndrome likely

📊

No pathogenic variant detected

Bjornstad syndrome unlikely but clinical correlation needed

⚠️ When to Consult a Doctor:

If symptoms of hearing loss or hair abnormalities are present, or if family history suggests genetic disorder.

Limitations

  • May not detect all types of mutations
  • Results require genetic counseling for interpretation

Risks & Considerations

  • Minor bruising at blood draw site
  • Rare risk of infection

Frequently Asked Questions

What is Bjornstad syndrome?
Bjornstad syndrome is a rare genetic disorder characterized by hearing loss and abnormal hair growth, such as twisted and brittle hair.
What causes Bjornstad syndrome?
It is caused by mutations in the BCS1L gene, which is involved in cellular energy production.
What are the symptoms of Bjornstad syndrome?
Symptoms include congenital or progressive hearing loss and pili torti (twisted hair).
How is Bjornstad syndrome diagnosed?
Diagnosis is typically through genetic testing, such as the BCS1L Gene NGS Genetic Test.
What does the BCS1L Gene NGS Genetic Test involve?
It involves sequencing the BCS1L gene using next-generation sequencing to detect mutations.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India.
How long does it take to get the test results?
Results are available within 3 to 4 weeks.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India.
What sample is required for the test?
A blood sample, extracted DNA, or one drop of blood on an FTA card.
Who should consider taking this test?
Individuals with symptoms of hearing loss and hair abnormalities, or those with a family history of Bjornstad syndrome.
What do the test results indicate?
Results show whether pathogenic mutations in the BCS1L gene are detected, aiding in diagnosis.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is advised to understand the implications and for 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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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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