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Results: 1 to 20 of 93

Tests names and labsConditionsGenes, analytes, and microbesMethods

Duchenne Muscular Dystrophy test

Genetics and Genomic Medicine Centre NeuroGen Healthcare
Bangladesh
21
  • D Deletion/duplication analysis

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Carrier Screening - Duchenne Muscular Dystrophy (DMD)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
21
  • D Deletion/duplication analysis

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

Dilated Cardiomyopathy/LVNC Panel

Mayo Clinic Laboratories Mayo Clinic
United States
5263
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

DMD Gene, Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
41
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
31
  • D Deletion/duplication analysis

Duchenne and Becker muscular dystrophy (DMD gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
21
  • D Deletion/duplication analysis

Pan Cardiomyopathy Panel (62 Genes)

Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine
United States
10061
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DMD - MLPA

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis

DMD - NGS including CNV analysis

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

Carrier Screening Guidelines-Based Panel

Ambry Genetics
United States
199164
  • 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

Invitae Rhabdomyolysis and Metabolic Myopathy Panel

Invitae
United States
202128
  • D Deletion/duplication analysis

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Becker muscular dystrophy, 300376, X-linked recessive (Becker muscular dystrophy) (Prenatal) (MLPA)

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

Results: 1 to 20 of 93

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.