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Nx Gen Sequencing: Bethlem Myopathy Myofibrillar Myopathy & Ullrich Muscular Dystrophy Test

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Nx Gen Sequencing: Bethlem Myopathy Myofibrillar Myopathy & Ullrich Muscular Dystrophy Test

Also known as: Collagen VI-related Myopathy Test, Muscular Dystrophy Genetic Panel, NGS for Muscle Disorders

Nx Gen Sequencing: Bethlem Myopathy Myofibrillar Myopathy & Ullrich Muscular Dystrophy Test test available at DNA Labs India for ₹23,400. Uses Next-Generation Sequencing (NGS), Sanger Sequencing on Whole blood samples. Results in Report delivered in 40 working days after sample receipt.. Free home collection in 300+ cities across India.

Next-Generation SequencingPediatric and Adult🏠 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 genetic mutations responsible for Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich Muscular Dystrophy, enabling early diagnosis, treatment planning, and genetic counseling.

Test Code
1332
Price
₹23,400
Sample Type
Whole blood
Result Time
Report delivered in 40 working days after sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing
Step 1

Sample Collection

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard venipuncture procedure for blood sample collection.

Step 3

Report Delivery

Sample processed for DNA extraction and genetic sequencing.

Timeline: Report delivered in 40 working days after sample receipt.

Patient Instructions

1
Before the Test:Complete consent form and ensure sample is collected as per instructions.
2
During the Test:Blood sample drawn and sent to laboratory for analysis.
3
After the Test:Results available after 40 working days; follow up with healthcare provider for interpretation.

About This Test

Who Should Get This Test

To identify genetic mutations responsible for Bethlem Myopathy, Myofibrillar Myopathy, and Ullrich Muscular Dystrophy, enabling early diagnosis, treatment planning, and genetic counseling.

How to Prepare

  • Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes.
  • Ship refrigerated. DO NOT FREEZE.
  • Include completed Whole Exome Sequencing Consent Form (Form 37).

Doctor's Notes

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

"This genetic test is essential for early diagnosis and management of collagen VI-related myopathies and myofibrillar myopathies, guiding treatment and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole blood
Sample Volume10 mL (5 mL min.)
Container2 Lavender Top (EDTA) tubes
Collection MethodVenipuncture

Sample Stability

Room Temperature6 hours
Refrigerator72 hours
FrozenNot Applicable
Sample Rejection Criteria:
  • No consent form
  • Improper sample type
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Expired sample stability

Understanding Your Results

Results indicate presence or absence of pathogenic mutations in the tested genes. Normal results show no mutations detected, while abnormal results identify specific genetic variants.
📊

No mutation detected

Normal sequence for all tested genes; clinical symptoms may be due to other causes.

📊

Pathogenic mutation identified

Genetic variant associated with disease; confirmatory testing and clinical correlation recommended.

📊

Variant of uncertain significance (VUS)

Genetic variant with unclear clinical impact; further evaluation and family studies may be needed.

⚠️ When to Consult a Doctor:

If experiencing persistent muscle weakness, joint contractures, respiratory issues, or have a family history of muscular dystrophies, consult a neurologist or geneticist.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Variant of uncertain significance (VUS) possible
  • ⚠Does not rule out other causes of muscle disorders
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Rare risk of infection
  • ●No significant genetic test-related risks

Interfering Factors

  • ●Sample contamination
  • ●Improper sample storage
  • ●Hemolyzed blood sample
  • ●Insufficient sample volume

Compare With Similar Tests

TestNx Gen Sequencing: Bethlem Myopathy Myofibrillar Myopathy & Ullrich Muscular Dystrophy Test
ComparisonNx Gen Sequencing: Bethlem Myopathy Myofibrillar Myopathy & Ullrich Muscular Dystrophy Test

Frequently Asked Questions

What is the Nx Gen Sequencing test for Bethlem Myopathy?
It is a genetic test using Next-Generation Sequencing to identify mutations in genes like COL6A1, COL6A2, and COL6A3 associated with Bethlem Myopathy and related disorders.
What symptoms indicate the need for this test?
Symptoms include progressive muscle weakness, joint contractures, difficulty walking, respiratory problems, and scoliosis, especially in early childhood.
How is Ullrich Muscular Dystrophy diagnosed?
Diagnosis involves clinical examination, muscle biopsy, and genetic testing such as Nx Gen Sequencing to identify mutations in collagen VI genes.
Which genes are analyzed in this test?
The test covers genes: BAG3, COL6A1, COL6A2, COL6A3, CRYAB, DES, FLNC, LDB3, and MYOT.
What is the cost of the test?
The test costs INR 23400, with free home sample collection available across India.
How long does it take to receive the report?
Reports are typically available within 40 working days after sample collection.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings in numerous cities in India.
What sample is required for the test?
A whole blood sample of 10 mL (5 mL min.) from 2 Lavender Top (EDTA) tubes is required.
Do I need to fast before the test?
No fasting is required, but a completed Whole Exome Sequencing Consent Form (Form 37) is mandatory.
What is the accuracy of the genetic test?
The test uses NGS and Sanger sequencing for high accuracy, but may not detect all rare mutations or variants of uncertain significance.
Can this test detect all causes of muscular dystrophies?
It targets specific genes; other genetic or non-genetic causes may require additional testing.
What should I do if I have a family history of these disorders?
Consult a neurologist or geneticist for evaluation and consideration of genetic testing for early diagnosis and counseling.
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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