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Results: 1 to 20 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cardiomyopathy and Arrhythmia Panel

Mayo Clinic Laboratories Mayo Clinic
United States
73105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Cardiomyopathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6883
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypertrophic Cardiomyopathy Panel

Mayo Clinic Laboratories Mayo Clinic
United States
4448
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MVL Vision Panel

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

MTO1 - 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

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ataxia / Spastic Paraplegia Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
451452
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ataxia / Spastic Paraplegia Panel

Centogene AG - the Rare Disease Company
Germany
442443
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoICU Panel

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

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
971680
  • D Deletion/duplication analysis

Invitae Nuclear Mitochondrial Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypoglycemia Panel - Expanded

PreventionGenetics, part of Exact Sciences
United States
131115
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Combined oxidative phosphorylation deficiency 10, 614702, Autosomal recessive; COXPD10 (Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency) (MTO1 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

Combined oxidative phosphorylation deficiency 10, 614702, Autosomal recessive; COXPD10 (Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency) (MTO1 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

MTO1 - Combined oxidative phosphorylation deficiency

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Pan Cardiomyopathy Panel

PreventionGenetics, part of Exact Sciences
United States
112111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypertrophic Cardiomyopathy Panel

PreventionGenetics, part of Exact Sciences
United States
6764
  • 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
223201
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 46

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.