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MYBPC1 Gene Lethal congenital contracture syndrome type 4 NGS Genetic Test

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MYBPC1 Gene Lethal congenital contracture syndrome type 4 NGS Genetic Test

Short Name: MYBPC1 LCCS4 NGS Test

Also known as: LCCS4, Lethal Congenital Contracture Syndrome Type 4

MYBPC1 Gene Lethal congenital contracture syndrome type 4 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.

PediatricsInfants🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Lethal Congenital Contracture Syndrome Type 4 by detecting mutations in the MYBPC1 gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
2754
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 the patient and a genetic counseling session to draw a pedigree chart of family members affected with LCCS4.

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 clinical history assessment are recommended before testing.
2
During the Test:Sample collection is minimally invasive, typically a blood draw.
3
After the Test:Results are available online; follow-up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose Lethal Congenital Contracture Syndrome Type 4 by detecting mutations in the MYBPC1 gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Collect blood sample in EDTA tube or use FTA card for one drop blood
  • Ensure proper labeling and transport to lab

Doctor's Notes

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

"Early genetic diagnosis of LCCS4 is crucial for family counseling and management planning. Consult a genetic specialist for personalized care."

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 pathogenic variants in the MYBPC1 gene. Positive results confirm LCCS4, while negative results may require further testing.
📊

Positive for pathogenic variants

Confirms diagnosis of LCCS4; genetic counseling recommended

📊

Negative for pathogenic variants

LCCS4 unlikely; consider other genetic or clinical causes

⚠️ When to Consult a Doctor:

If your infant shows symptoms such as joint contractures, muscle weakness, or respiratory distress, or if there is a family history of LCCS4, consult a genetic specialist or pediatrician.

Limitations

  • Test may not detect all possible mutations in the MYBPC1 gene
  • Results require interpretation by a genetic specialist

Risks & Considerations

  • Minimal physical risk from blood draw
  • Potential psychological impact of results

Frequently Asked Questions

What is MYBPC1 Gene Lethal Congenital Contracture Syndrome Type 4?
It is a rare genetic disorder caused by mutations in the MYBPC1 gene, leading to severe joint contractures and muscle issues in infants.
How is LCCS4 diagnosed?
Diagnosis is confirmed through genetic testing, such as the NGS Genetic Test for the MYBPC1 gene.
What is the cost of the NGS Genetic Test for LCCS4?
The test costs INR 20,000 at DNA Labs India, including sample collection and analysis.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get the results?
Results are typically available in 3 to 4 weeks.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for this test.
What are the symptoms of LCCS4?
Symptoms include multiple joint contractures, low birth weight, muscle weakness, respiratory distress, and feeding difficulties.
Who should consider this test?
Infants with symptoms of LCCS4 or families with a history of the disorder should consider testing.
What does a positive test result mean?
A positive result confirms the presence of pathogenic variants in the MYBPC1 gene, indicating LCCS4.
Is genetic counseling recommended?
Yes, genetic counseling is recommended before and after testing to understand implications and family planning.
Are there any risks associated with the test?
Risks are minimal, mainly related to blood draw, but psychological impact of results should be considered.
How accurate is the NGS Genetic Test?
NGS technology provides high accuracy for detecting mutations, but interpretation by a specialist is essential.
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 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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