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Results: 1 to 20 of 44

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Congenital Myopathy Sequencing Panel

Genetic Services Laboratory University of Chicago
United States
2719
  • C Sequence analysis of the entire coding region

Congenital Myopathy Deletion/Duplication Analysis

Genetic Services Laboratory University of Chicago
United States
2517
  • D Deletion/duplication analysis

Nemaline Myopathy Panel (7 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MyoGene Panel (43 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
9543
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy Panel (14 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2714
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nemaline myopathy type 3

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

TPM3. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

TNNT1. Complete sequencing

Instituto de Medicina Genomica
Spain
41
  • C Sequence analysis of the entire coding region

ACTA1. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

CFL2. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

Nemaline Myopathy Sequencing Panel

PreventionGenetics
United States
99
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital Myopathy NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
2019
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

a-Actin (Skeletal Muscle Form)-Related Myopathy via the ACTA1 Gene

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

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel

Invitae
United States
190150
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Nemaline Myopathy Panel

Invitae
United States
1110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Myopathy Panel

Invitae
United States
5550
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
141116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CONGENITAL MYOPATHY

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
126
  • C Sequence analysis of the entire coding region

NEMALINE MYOPATHY

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
77
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 44

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.