Sale!

Myotonic Dystrophy Type 2 Test

Original price was: $376.Current price is: $226.

-40%

The Myotonic Dystrophy Type 2 Test is a specialized genetic analysis that detects mutations in the ZNF9 gene, which causes this progressive neuromuscular disorder. This comprehensive test helps identify individuals at risk for developing symptoms including muscle weakness, myotonia, cardiac abnormalities, and endocrine dysfunction. Early detection through this $226 USD test enables proactive management strategies, family planning decisions, and personalized treatment approaches. The test utilizes advanced PCR and fragment analysis technology for accurate results, with samples processed through our molecular diagnostics department. Results are typically available within one week, providing crucial information for neurologists and patients to develop effective care plans.

Trusted Testing. Expert Care. Guaranteed Privacy.

  • Accredited and Trusted
  • Expert Scientists, Advanced Technology
  • Data Privacy Guaranteed
Guaranteed Safe Checkout

Myotonic Dystrophy Type 2 Genetic Test

Understanding Myotonic Dystrophy Type 2

Myotonic Dystrophy Type 2 (DM2) is an inherited neuromuscular disorder characterized by progressive muscle weakness, myotonia (delayed muscle relaxation), and multi-system involvement. This autosomal dominant condition results from a specific genetic mutation in the ZNF9 gene on chromosome 3q21. Unlike its more common counterpart (DM1), DM2 typically presents with milder symptoms and later onset, though it can significantly impact quality of life and requires proper medical management.

What Does the Test Measure?

Our advanced genetic test specifically targets the ZNF9 gene to detect the CCTG repeat expansion responsible for Myotonic Dystrophy Type 2. Using sophisticated PCR and fragment analysis technology, we accurately identify:

  • CCTG repeat expansions in the ZNF9 gene
  • Mutation size and characteristics
  • Genetic confirmation of DM2 diagnosis
  • Carrier status for family members

Who Should Consider This Test?

Clinical Indications and Symptoms

This test is recommended for individuals experiencing:

  • Progressive muscle weakness, particularly in hips and thighs
  • Myotonia (muscle stiffness and delayed relaxation)
  • Cardiac conduction abnormalities or arrhythmias
  • Early cataracts or vision changes
  • Endocrine disorders including diabetes or thyroid dysfunction
  • Family history of neuromuscular disorders
  • Unexplained fatigue and exercise intolerance

Benefits of Genetic Testing

Early detection through genetic testing provides numerous advantages:

  • Accurate Diagnosis: Confirms DM2 versus other neuromuscular conditions
  • Proactive Management: Enables early intervention and symptom management
  • Family Planning: Provides information for reproductive decisions
  • Treatment Guidance: Helps neurologists develop targeted treatment plans
  • Risk Assessment: Identifies at-risk family members for preventive care
  • Peace of Mind: Reduces uncertainty about symptoms and prognosis

Understanding Your Test Results

Our comprehensive report provides clear interpretation of your genetic findings:

  • Normal Result: No CCTG expansion detected – low risk for DM2
  • Positive Result: CCTG expansion confirmed – diagnosis of DM2 established
  • Intermediate Result: Borderline expansion may require follow-up
  • Carrier Status: Information about genetic risk to offspring

All results are reviewed by our team of genetic specialists and include recommendations for next steps, including consultation with a neurologist for comprehensive care planning.

Test Pricing and Details

Test Component Price (USD)
Myotonic Dystrophy Type 2 Test – Discount Price $226
Myotonic Dystrophy Type 2 Test – Regular Price $376

Testing Process and Timeline

  • Turnaround Time: Sample by Monday 11 AM, Results by Friday
  • Sample Type: 4 mL (2 mL minimum) whole blood in Lavender Top EDTA tube
  • Shipping: Refrigerated transport required – DO NOT FREEZE
  • Required Documentation: Completed Genomics Clinical Information Requisition Form (Form 20)

Nationwide Testing Availability

We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including:

  • New York City and surrounding tri-state area
  • Los Angeles and Southern California region
  • Chicago and Midwest locations
  • Houston, Dallas, and Texas facilities
  • Miami, Orlando, and Florida centers
  • Seattle, Portland, and Pacific Northwest sites

Take Control of Your Neurological Health

Don’t let uncertainty about neuromuscular symptoms affect your quality of life. Our Myotonic Dystrophy Type 2 test provides the clarity needed to make informed healthcare decisions and develop effective management strategies with your neurologist.

Ready to schedule your test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Our specialists are available to answer your questions and guide you through the testing process.

Early detection through genetic testing can significantly improve long-term outcomes and quality of life for individuals with Myotonic Dystrophy Type 2. Take the first step toward understanding your genetic health today.