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Results: 1 to 10 of 10

Tests names and labsConditionsGenes, analytes, and microbesMethods

KY - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myopathy, myofibrillar, 7, 617114, Autosomal recessive; MFM7 (KY 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

Myopathy, myofibrillar, 7, 617114, Autosomal recessive; MFM7 (KY 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

NeuromuscularZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
480254
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia Exome

Genetic Services Laboratory University of Chicago
United States
2260
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Panel

PreventionGenetics, Part of Exact Sciences
United States
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myopathy Panel

PreventionGenetics, Part of Exact Sciences
United States
5741
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myopathy, myofibrillar: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
109
  • C Sequence analysis of the entire coding region

Results: 1 to 10 of 10

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