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Results: 1 to 20 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Mitochondrial Genome Sequencing and Depletion/Integrity Panel

Molecular Genetics Laboratory London Health Sciences Centre
Canada
4852
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MVL Vision Panel

Molecular Vision Laboratory
United States
13581028
  • C Sequence analysis of the entire coding region

SLC25A4 - NGS including CNV analysis

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

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Rhabdomyolysis and Metabolic Myopathy Panel

Invitae
United States
202128
  • D Deletion/duplication analysis

Invitae Nuclear Mitochondrial Disorders Panel

Invitae
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mitochondrial Disorders Panel (Nuclear Genes Only)

PreventionGenetics, part of Exact Sciences
United States
292253
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418, Autosomal recessive; MTDPS12B (Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418, Autosomal recessive; MTDPS12B (Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418, Autosomal recessive; MTDPS12B (Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome) (SLC25A4 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

Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418, Autosomal recessive; MTDPS12B (Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome) (SLC25A4 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

SLC25A4 - Mitochondrial DNA depletion syndrome

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
31
  • C Sequence analysis of the entire coding region

Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel

PreventionGenetics, part of Exact Sciences
United States
3013
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel

PreventionGenetics, part of Exact Sciences
United States
10683
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Cardiology Panel

PreventionGenetics, part of Exact Sciences
United States
223198
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Autosomal Dominant Progressive External Ophthalmoplegia and Hypertrophic Cardiomyopathy with Mitochondrial Myopathy via the SLC25A4 Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SLC25A4

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 43

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