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Results: 1 to 20 of 65

Tests names and labsConditionsGenes and analytesMethods

Limb-Girdle Muscular Dystrophy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
4630
  • C Sequence analysis of the entire coding region

Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
3925
  • D Deletion/duplication analysis

Congenital Muscular Dystrophy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
4227
  • C Sequence analysis of the entire coding region

Congenital Muscular Dystrophy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
4126
  • D Deletion/duplication analysis

Cobblestone Lissencephaly Panel

Genetic Services Laboratory University of Chicago
United States
617
  • C Sequence analysis of the entire coding region

AllNeuro panel

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

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A

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

FamilyReady Carrier Screen (204 Genes/400+ Disorders)

EvolveGene
United States
204156
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Comprehensive Neuromuscular Sequencing Panel

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

POMGNT1. Complete sequencing

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

Walker-Warburg Syndrome via the POMGNT1 Gene

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

Congenital Muscular Dystrophy Sequencing Panel

PreventionGenetics
United States
3327
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dystroglycan-Related Congenital Muscular Dystrophy Sequencing Panel

PreventionGenetics
United States
2218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Brain Malformations: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
9250
  • C Sequence analysis of the entire coding region

MUSCLE-EYE-BRAIN DISEASE

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

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

Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A3 , Sequencing POMGNT1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Male)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 65

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.

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