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Results: 21 to 40 of 72

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Comprehensive Neuromuscular Disorders Panel

Invitae
United States
353208
  • D Deletion/duplication analysis

Familial Limb Girdle Myasthenic Syndrome via the AGRN Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neuromuscular Disorders Panel 

CGC Genetics Unilabs
Portugal
17367
  • C Sequence analysis of the entire coding region

Myopathies, including congenital myopathies (WES based NGS panel of 180 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1180
  • C Sequence analysis of the entire coding region

Myasthenic syndrome fast channel congenital (NGS panel for 8 genes)

CGC Genetics Unilabs
Portugal
18
  • C Sequence analysis of the entire coding region

Arthrogryposis (WES based NGS panel for 240 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1240
  • C Sequence analysis of the entire coding region

Congenital Myasthenia (WES based NGS panel for 28 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
128
  • C Sequence analysis of the entire coding region

Myasthenic syndrome, congenital 8 (deletion/duplication analysis on AGRN gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Limb-girdle myasthenia syndrome, familial (sequence analysis of AGRN gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Neuromuscular Diseases Panel (Expanded)

Mendelics
Brazil
1288
  • C Sequence analysis of the entire coding region

Muscular Dystrophy, Myopathy and Myasthenia Panel

Mendelics
Brazil
391
  • C Sequence analysis of the entire coding region

CONGENITAL MYASTHENIC SYNDROME EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
130
  • E Sequence analysis of select exons

HEREDITARY ATAXIAS EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
11202
  • E Sequence analysis of select exons

MUSCULAR DISORDERS- EMCG GLOBAL EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1416
  • E Sequence analysis of select exons

ARTHROGRIPOSIS PANEL

Laboratorio de Genetica Clinica SL
Spain
1245
  • E Sequence analysis of select exons

MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL

Laboratorio de Genetica Clinica SL
Spain
1250
  • E Sequence analysis of select exons

Arthrogryposis panel. NGS panel of 69 genes.

Genologica Medica
Spain
13569
  • C Sequence analysis of the entire coding region

Congenital myasthenic syndromes panel. 18-gene NGS panel.

Genologica Medica
Spain
3818
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Congenital Hypotonia Xpanded Panel

GeneDx
United States
101423
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 72

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.