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BCAP31 Gene Deafness, dystonia, and cerebral hypomyelination, X-linked NGS Genetic Test

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BCAP31 Gene Deafness, dystonia, and cerebral hypomyelination, X-linked NGS Genetic Test

Short Name: BCAP31 Gene Test

Also known as: BCAP31-related disorder test, X-linked deafness-dystonia-hypomyelination test

BCAP31 Gene Deafness, dystonia, and cerebral hypomyelination, X-linked NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from 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 mutations in the BCAP31 gene for diagnosis of X-linked deafness, dystonia, and cerebral hypomyelination, aiding in clinical management and genetic counseling.

Test Code
4758
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation required. Genetic counseling session recommended prior to testing.

Method: Venipuncture for blood collection

Step 2

Laboratory Analysis

Blood sample collected by a trained phlebotomist using sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site; sample sent to laboratory for analysis.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Genetic counseling to discuss test implications, family history, and consent.
2
During the Test:Sample processed using NGS technology for BCAP31 gene sequencing.
3
After the Test:Report generation with interpretation; follow-up counseling recommended.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the BCAP31 gene for diagnosis of X-linked deafness, dystonia, and cerebral hypomyelination, aiding in clinical management and genetic counseling.

How to Prepare

  • Use sterile equipment
  • Label sample with patient details
  • Transport at ambient temperature

Doctor's Notes

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

"Early genetic testing for BCAP31 mutations is essential for timely diagnosis, management, and genetic counseling in affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS analysis
ContainerEDTA tube for blood samples
Collection MethodVenipuncture for blood collection

Sample Stability

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

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the BCAP31 gene, which are associated with X-linked neurological disorders.
Positive result: Pathogenic variant detected, confirming diagnosis; consult genetic counselor for management.
Negative result: No pathogenic variant detected; clinical correlation needed, consider other genetic tests.
Variant of uncertain significance (VUS): Further testing and family studies may be required.
⚠️ When to Consult a Doctor:

If symptoms such as unexplained deafness, dystonia, developmental delay, or seizures are present, or with a family history of similar disorders.

Limitations

  • ⚠May not detect all mutation types (e.g., large deletions)
  • ⚠Requires clinical correlation and genetic counseling
  • ⚠False negatives possible in rare cases

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Psychological impact of genetic results
  • ●Potential for uncertain results

Interfering Factors

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

Compare With Similar Tests

TestBCAP31 Gene Deafness, dystonia, and cerebral hypomyelination, X-linked NGS Genetic TestWhole Exome SequencingChromosomal Microarray
ComparisonBCAP31 Gene Deafness, dystonia, and cerebral hypomyelination, X-linked NGS Genetic Test

Frequently Asked Questions

What is the BCAP31 gene test?
It is an NGS-based genetic test to detect mutations in the BCAP31 gene, linked to X-linked deafness, dystonia, and cerebral hypomyelination.
Who should consider this test?
Individuals with symptoms like deafness, dystonia, developmental delay, or seizures, and those with a family history of similar disorders.
How is the test performed?
A blood or DNA sample is analyzed using next-generation sequencing technology to identify BCAP31 gene mutations.
What are the symptoms of BCAP31 gene mutation?
Common symptoms include deafness, dystonia, cerebral hypomyelination, muscle weakness, seizures, and developmental delay.
How accurate is the test?
NGS technology provides high accuracy for detecting mutations, but genetic counseling is essential for interpretation.
What is the cost of the test?
The test costs INR 20000 in India, with home sample collection available at no extra charge.
Is home sample collection available?
Yes, free home collection is offered in multiple cities across India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Positive results indicate a mutation linked to the disorder; negative results suggest no mutation, but clinical correlation is needed.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after the test to understand implications and guide management.
Can this test be used for prenatal diagnosis?
It may be used in prenatal settings with appropriate genetic counseling, but consult a specialist for options.
What are the treatment options for BCAP31-related disorders?
Treatment is supportive, including therapies for deafness, dystonia, and seizures; early diagnosis aids in management.
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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