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Results: 1 to 12 of 12

Tests names and labsConditionsGenes, analytes, and microbesMethods

ACTA1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Myopathy, scapulohumeroperoneal, 616852, Autosomal dominant; SHPM (Progressive scapulohumeroperoneal distal myopathy) (ACTA1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Myopathy, scapulohumeroperoneal, 616852, Autosomal dominant; SHPM (Progressive scapulohumeroperoneal distal myopathy) (ACTA1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
480254
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Myopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
14370
  • D Deletion/duplication analysis

Invitae Congenital Myopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6137
  • D Deletion/duplication analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
353208
  • D Deletion/duplication analysis

Arthrogryposis panel. NGS panel of 69 genes.

Genologica Medica
Spain
13569
  • C Sequence analysis of the entire coding region

Nemaline myopathy panel. NGS panel of 11 genes.

Genologica Medica
Spain
1511
  • C Sequence analysis of the entire coding region

Myopathy: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
54
  • C Sequence analysis of the entire coding region

Myopathy Panel, Congenital

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
3317
  • C Sequence analysis of the entire coding region

Neuromuscular Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13862
  • C Sequence analysis of the entire coding region

Results: 1 to 12 of 12

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