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MYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic Test

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MYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic Test

Short Name: MYBPC1 Arthrogryposis Test

Also known as: Distal Arthrogryposis Type 1B, MYBPC1-related arthrogryposis, Congenital distal arthrogryposis

MYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing 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.

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 this test is to detect pathogenic mutations in the MYBPC1 gene that cause distal arthrogryposis type 1B, enabling accurate diagnosis, informing management strategies, and facilitating genetic counseling for affected individuals and families.

Test Code
4846
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
NGS, Next-Generation Sequencing
Step 1

Sample Collection

No special preparation such as fasting is required. Provide clinical history and family pedigree information.

Method: Blood draw or saliva sample

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist or a saliva sample collected using a kit.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No special preparation needed. Provide detailed clinical and family history.
2
During the Test:Sample collection via blood draw or saliva; analysis performed in the lab using NGS technology.
3
After the Test:Results are delivered in 3-4 weeks. Genetic counseling is advised for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the MYBPC1 gene that cause distal arthrogryposis type 1B, enabling accurate diagnosis, informing management strategies, and facilitating genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper identification and labeling of samples
  • Use sterile collection tubes
  • Transport samples at ambient temperature

Doctor's Notes

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

"This NGS test is essential for confirming genetic etiology in suspected arthrogryposis cases, aiding in family planning and early intervention strategies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodBlood draw or saliva sample

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 samples
  • Incorrectly labeled or insufficient samples
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the MYBPC1 gene. Genetic counseling is recommended for interpretation.
📊

Pathogenic variant detected

Confirms diagnosis of MYBPC1-related distal arthrogryposis type 1B

📊

No pathogenic variant detected

MYBPC1 gene mutation not identified; consider other genetic causes

📊

Variant of uncertain significance

Further testing and family studies may be needed

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms of arthrogryposis are present, such as joint contractures or muscle weakness, or if there is a family history of the disorder.

Limitations

  • ⚠May not detect all types of genetic variants (e.g., large deletions)
  • ⚠Requires correlation with clinical findings and genetic counseling
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk from blood draw, such as slight pain or bruising
  • ●No significant risks from saliva collection

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Insufficient sample volume
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestMYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic TestArthrogryposis Multiplex Congenita NGS PanelMYBPC3 Gene TestWhole Exome Sequencing
ComparisonMYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic Test

Frequently Asked Questions

What is MYBPC1 Gene Arthrogryposis, Distal, Type 1B?
It is a rare genetic disorder caused by mutations in the MYBPC1 gene, leading to joint contractures and muscle weakness primarily in distal joints like fingers and toes.
What are the symptoms of this disorder?
Symptoms include contractures in hands and feet, claw-like appearance, difficulty with fine motor skills, muscle weakness, walking issues, scoliosis, and breathing difficulties.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from a blood or saliva sample for mutations in the MYBPC1 gene.
What is the cost of the test?
The test costs INR 20,000 in India, with free home sample collection available.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What should I do before getting tested?
Provide clinical history and undergo genetic counseling to draw a family pedigree chart.
Can this test detect all mutations causing arthrogryposis?
It specifically targets MYBPC1 gene mutations; other genes may require different tests.
Is the test covered by insurance?
Coverage depends on your insurance plan; check with your provider. Government schemes like PMJAY may not cover it.
What files are provided with the report?
DNA Labs India provides raw data, FASTQ, and VCF files along with the clinical test report for transparency.
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

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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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