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Results: 21 to 40 of 48

Tests names and labsConditionsGenes, analytes, and microbesMethods

Skeletal Dysplasias and Disorders Panel 

CGC Genetics Unilabs
Portugal
1606
  • 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

Neuromuscular Diseases Panel (Expanded)

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

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

SKELETAL DYSPLASIAS PANEL

Laboratorio de Genetica Clinica SL
Spain
1643
  • E Sequence analysis of select exons

MUSCULAR DYSTROPHIES/ MYOPATHIES PANEL

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

Nemaline myopathy panel. NGS panel of 11 genes.

Genologica Medica
Spain
1511
  • 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

Prenatal Akinesia Arthrogryposis Panel

GeneDx
United States
627
  • D Deletion/duplication analysis
  • 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

Congenital Myopathies (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
855
  • C Sequence analysis of the entire coding region

Arthrogryposis Panel    

GeneDx
United States
15691
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Disorders Panel

GeneDx
United States
199
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular disorders - different panels

Institute of Human Genetics Cologne University
Germany
16474
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NewbornDx Advanced Sequencing Evaluation

Athena Diagnostics
United States
11722
  • C Sequence analysis of the entire coding region

Nemaline myopathy: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1411
  • C Sequence analysis of the entire coding region

Congenital Myopathy NGS Panel

Fulgent Genetics
United States
18661
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy and Distal Myopathy NGS panel

Asper Biogene Asper Biogene LLC
Estonia
7841
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 48

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.