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Zarqa’s Neuromuscular Panel

Comprehensive Genetic Testing for Muscular Diseases

Overview

Our Neuromuscular Panel offers advanced genetic testing for patients presenting with muscular diseases. This comprehensive panel includes genes associated with a wide range of neurological disorders, covering:

  • Metabolic Myopathies
  • Muscular Dystrophies
  • Charcot-Marie-Tooth Disease
  • Congenital Myasthenic Syndromes
  • Congenital Myopathies
  • Myofibrillar Myopathies
  • Nemaline Myopathies
  • Syndromes with Hypotonia, Myotonia, or Weakness

Key Features:

No. of Genes

355

Turnaround Time (TAT)

30 Business Days

Coverage

≥99.00% ≥20x

Techniques

NGS including CNV Analysis, Repeat Expansion Analysis (DMPK), MLPA (SMN1, SMN2)

Additional Services

MLPA targeted to the DMD gene for Duchenne Muscular Dystrophy (recommended for high diagnostic suspicion)

Common Syndromes and Disorders Covered

  • Arthrogryposis
  • Bethlem Myopathy
  • Charcot-Marie-Tooth Disease
  • Congenital Myasthenic Syndrome
  • Congenital Myopathy
  • Dejerine-Sottas Syndrome
  • Hyperekplexia
  • Hypotonia
  • Malignant Hyperthermia
  • Metabolic Myopathies
  • Muscular Dystrophy
  • Myofibrillar Myopathy
  • Myopathy-Rhabdomyolysis Syndrome
  • Nemaline Myopathy
  • Non-dystrophic Myotonia Congenita
  • Spinal Muscular Atrophy Type 1
  • Ullrich Muscular Dystrophy
  • Trust in Comprehensive Genetic Testing

Sample Requirements:

  • Blood
  • Saliva
  • DBS

 

Coverage:

  • ≥99.00% ≥20x