Skip to main content
DNA Labs India

CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test

Short Name: CCDC78 CNM Type 4 Genetic Test

Also known as: CCDC78 Gene Mutation Test, Centronuclear Myopathy Type 4 Genetic Test

CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, FTA Card samples. Results in 3-4 weeks. 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

The purpose of the CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test is to detect mutations in the CCDC78 gene that cause Centronuclear Myopathy Type 4. It confirms diagnosis, identifies specific genetic variants, aids in clinical management, and supports genetic counseling for affected individuals and families.

Test Code
1541
Price
₹20,000
Sample Type
Blood, Extracted DNA, FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No special preparation is required. Genetic counseling is advised to understand the test and implications.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

A standard blood draw or finger prick will be performed by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities unless otherwise instructed.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to discuss the test purpose, process, and potential outcomes. Ensure informed consent is provided.
2
During the Test:A blood sample is collected and sent to the laboratory for NGS analysis of the CCDC78 gene.
3
After the Test:Wait for the report (3-4 weeks). Review results with a healthcare provider or genetic counselor for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the CCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test is to detect mutations in the CCDC78 gene that cause Centronuclear Myopathy Type 4. It confirms diagnosis, identifies specific genetic variants, aids in clinical management, and supports genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • For blood samples, use sterile technique to avoid contamination
  • For FTA card, collect one drop of blood and air-dry as per instructions
  • Store samples at recommended temperature before transport

Doctor's Notes

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

"Genetic testing for CNM Type 4 is essential for early diagnosis, management, and family planning. Consult a genetic counselor to discuss implications and next steps."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, FTA Card
Sample Volume3-5 mL
ContainerEDTA Tube or FTA Card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood: 48 hours at 2-8°C
Extracted DNA: 1 month at -20°C
FTA Card: Room temperature for up to 1 month
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Incorrect or missing sample labeling
  • Insufficient sample volume
  • Sample stored improperly beyond stability period

Understanding Your Results

Results from the CCDC78 Gene NGS Genetic Test indicate the presence or absence of mutations in the CCDC78 gene. Interpretation should be done by a qualified geneticist or healthcare provider in the context of clinical symptoms and family history.
Positive for pathogenic variant: Confirms diagnosis of CNM Type 4; genetic counseling and management planning recommended
Negative for pathogenic variant: Symptoms may be due to other genetic or non-genetic causes; further testing may be needed
Variant of uncertain significance: Requires additional family studies or functional analysis; clinical correlation advised
⚠️ When to Consult a Doctor:

Consult a neurologist, geneticist, or healthcare provider if symptoms persist, worsen, or if there is a family history of CNM. Discuss test results for appropriate management and genetic counseling.

Limitations

  • ⚠May not detect all types of mutations (e.g., deep intronic variants)
  • ⚠Genetic counseling is recommended to interpret results
  • ⚠Does not assess other genes related to centronuclear myopathy
  • ⚠False negatives are rare but possible due to technical limitations

Risks & Considerations

  • ●Minimal physical risks from blood draw (e.g., bruising, infection)
  • ●Psychological risks such as anxiety or stress related to results
  • ●Privacy concerns regarding genetic data

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample volume
  • ●Improper sample storage or handling
  • ●Recent blood transfusion (for blood samples)

Compare With Similar Tests

TestCCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test
ComparisonCCDC78 Gene Centronuclear Myopathy Type 4 NGS Genetic Test

Frequently Asked Questions

What is Centronuclear Myopathy Type 4?
Centronuclear Myopathy Type 4 is a rare genetic muscle disorder caused by mutations in the CCDC78 gene, leading to muscle weakness and wasting.
What causes CNM Type 4?
CNM Type 4 is caused by mutations in the CCDC78 gene and can be inherited in autosomal dominant or recessive patterns.
What are the common symptoms of CNM Type 4?
Symptoms include muscle weakness, poor muscle tone, difficulty swallowing and breathing, delayed motor milestones, scoliosis, and joint contractures.
How is CNM Type 4 diagnosed?
Diagnosis involves clinical examination, genetic testing (like the CCDC78 NGS test), and sometimes muscle biopsy.
What does the CCDC78 Gene NGS Genetic Test involve?
It uses next-generation sequencing to analyze the CCDC78 gene for mutations from a blood or DNA sample.
How accurate is the NGS test for CNM Type 4?
The test has a high accuracy rate (>99%) for detecting mutations in the CCDC78 gene.
What is the cost of the CCDC78 Gene Test?
The test costs INR 20,000, including home sample collection in many Indian cities.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get the test report?
Reports are typically available in 3-4 weeks after sample collection.
What should I do before taking the test?
No special preparation is needed, but genetic counseling is recommended to understand the process and implications.
Are there any risks associated with the genetic test?
Physical risks are minimal (e.g., bruising from blood draw), but psychological risks like anxiety may occur; genetic counseling can help.
Can the test detect all mutations in the CCDC78 gene?
While highly accurate, it may not detect very rare or deep intronic mutations; genetic counseling is advised for interpretation.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.