Filters

See more specimen types...

Other countries

Results: 1 to 20 of 49

Tests names and labsConditionsGenes and analytesMethods

j-FamilyReady Sephardic-Mizrahi Carrier Screen (52 genes)

EVOLVEGENE EvolveGene
United States
9752
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

j-FamilyReady Ashkenazi + Sephardic-Mizrahi Carrier Screen (95 genes)

EVOLVEGENE EvolveGene
United States
16595
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DonorReady Customized Carrier Screen (Select from 204 Genes)

EVOLVEGENE EvolveGene
United States
325204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FamilyReady Carrier Screen (204 Genes)

EVOLVEGENE EvolveGene
United States
325204
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Miyoshi myopathy

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

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel

PreventionGenetics
United States
7259
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Sequencing Panel

PreventionGenetics
United States
148124
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

DYSF. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

DYSF. Detection of the mutations 1624delG and 927delG by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

Congenital Myopathy and Distal Myopathy NGS panel

Asper Biogene Asper Biogene LLC
Estonia
8341
  • C Sequence analysis of the entire coding region

Expanded Neuromuscular Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15277
  • D Deletion/duplication analysis

MIYOSHI MYOPATHY

Laboratorio de Genetica Clinica SL
Spain
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Miyoshi muscular dystrophy 1 (deletions/duplications analysis of DYSF gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Miyoshi muscular dystrophy 1 (deletions/duplications analysis of DYSF gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

Neuromuscular Disorders Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
244144
  • C Sequence analysis of the entire coding region

Limb-Girdle Muscular Dystrophy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
8030
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Myopathy Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
5719
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rhabdomyolysis Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
7239
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Muscular Dystrophy Advanced Evaluation

Athena Diagnostics Inc
United States
5633
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 49

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.

Support Center