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CCDC50 Gene Deafness, autosomal dominant type 44 NGS Genetic Test

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CCDC50 Gene Deafness, autosomal dominant type 44 NGS Genetic Test

Short Name: CCDC50 Gene Deafness NGS Test

Also known as: DFNA44, Autosomal Dominant Deafness Type 44, CCDC50-Related Deafness

CCDC50 Gene Deafness, autosomal dominant type 44 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 from sample receipt. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 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 pathogenic variants in the CCDC50 gene that cause autosomal dominant deafness type 44, aiding in precise diagnosis, personalized treatment, and genetic risk assessment for families.

Test Code
2307
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history of hearing loss symptoms and family pedigree. A genetic counseling session is advised to discuss implications and draw a family tree.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Standard blood draw or FTA card collection following aseptic techniques to ensure sample integrity.

Step 3

Report Delivery

Label samples correctly and transport at ambient temperature. Avoid repeated freeze-thaw cycles for DNA samples.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Complete pre-test genetic counseling and provide informed consent. Share family medical history and previous hearing test reports.
2
During the Test:Sample collection via blood draw or FTA card; procedure is minimally invasive and takes about 15 minutes.
3
After the Test:Sample processed in the lab using NGS technology; report delivered in 3-4 weeks with genetic counseling support.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the CCDC50 gene that cause autosomal dominant deafness type 44, aiding in precise diagnosis, personalized treatment, and genetic risk assessment for families.

How to Prepare

  • Use sterile collection tubes
  • Avoid hemolysis during blood draw
  • Store samples at room temperature if using FTA card

Doctor's Notes

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

"Genetic testing for conditions like CCDC50 gene deafness can inform family planning and early intervention strategies to improve quality of life."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood: Stable at 2-8°C for 48 hours
Extracted DNA: Stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Insufficient sample volume
  • Improperly labeled samples
  • Hemolyzed or clotted blood specimens

Understanding Your Results

Results from this NGS genetic test indicate the presence or absence of mutations in the CCDC50 gene linked to deafness. Consult a healthcare professional for personalized interpretation.
Positive result: Pathogenic variant identified, confirming genetic cause; further clinical evaluation and counseling recommended.
Negative result: No pathogenic variants detected; clinical correlation needed as other genes may be involved.
Variant of uncertain significance (VUS): Genetic counseling advised for family studies and follow-up.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience progressive hearing loss, have a family history of deafness, or need guidance on managing genetic hearing impairment.

Limitations

  • ⚠Test may not detect all possible mutations in CCDC50
  • ⚠Results require correlation with clinical phenotype
  • ⚠Genetic counseling recommended for interpretation

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●No significant risks associated with genetic testing itself

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood samples

Compare With Similar Tests

TestCCDC50 Gene Deafness, autosomal dominant type 44 NGS Genetic Test
ComparisonCCDC50 Gene Deafness, autosomal dominant type 44 NGS Genetic Test

Frequently Asked Questions

What is CCDC50 gene deafness?
It is a type of autosomal dominant hearing loss caused by mutations in the CCDC50 gene, leading to sensorineural deafness.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the CCDC50 gene from a blood or DNA sample.
What is the cost of the CCDC50 gene deafness test in India?
The test costs INR 20,000 at DNA Labs India, with free home collection across many cities.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in over 200 cities.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks after sample collection.
Who should consider this genetic test?
Individuals with a family history of deafness, unexplained hearing loss, or symptoms like difficulty hearing high-pitched sounds.
Is the test painful?
The test involves a blood draw, which may cause minor discomfort but is generally painless.
Can this test detect other types of genetic deafness?
This test specifically targets the CCDC50 gene; for broader detection, consider a comprehensive deafness gene panel.
What do the results mean?
A positive result indicates a pathogenic variant in CCDC50, confirming genetic cause; negative result suggests no mutation, but other genes may be involved.
Is genetic counseling required before the test?
Yes, genetic counseling is recommended to discuss test implications, family history, and interpretation of results.
Is the test covered by insurance in India?
Coverage varies; most government schemes like PMJAY or CGHS may not cover it, so check with your insurer.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting known mutations, but accuracy depends on sample quality and gene coverage.
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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