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Results: 1 to 20 of 58

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Myopathy Panel

Genetic Services Laboratory University of Chicago
United States
3143
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cardiology Sequencing- Arrhythmia Comprehensive Panel (134 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
88134
  • X Mutation scanning of select exons

Cardiology Sequencing- Full Panel (174 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
122174
  • X Mutation scanning of select exons

Neuromuscular Disorders exome

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

Genetic Services Laboratory University of Chicago
United States
116137
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

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

CentoCardio Panel

Centogene AG - the Rare Disease Company
Germany
289275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Myofibrillar myopathy and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myofibrillar myopathy and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1911
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Myofibrillar myopathy and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nemaline myopathy 3, autosomal dominant or recessive, 161800, Autosomal recessive, Autosomal dominant; NEM3 (Severe congenital nemaline 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

Nemaline myopathy 3, autosomal dominant or recessive, 161800, Autosomal recessive, Autosomal dominant; NEM3 (Severe congenital nemaline 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, actin, congenital, with cores, 161800, Autosomal recessive, Autosomal dominant (Severe congenital nemaline 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

Myopathy, actin, congenital, with cores, 161800, Autosomal recessive, Autosomal dominant (Severe congenital nemaline 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

NeuromuscularZoom

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

Myofibrillar myopathy and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 58

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.