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Results: 21 to 40 of 63

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neurodegenerative panel _v.2.0

CGC Genetics Unilabs
Portugal
15207
  • C Sequence analysis of the entire coding region

Spondylometaphyseal / spondyloepimetaphyseal dysplasia panel. 28-gene NGS panel.

Genologica Medica
Spain
6928
  • C Sequence analysis of the entire coding region

Arthrogryposis panel. NGS panel of 69 genes.

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

Predominantly distal muscular atrophy

Genologica Medica
Spain
4318
  • C Sequence analysis of the entire coding region

Central skeletal dysplasias panel. NGS panel of 111 genes.

Genologica Medica
Spain
258111
  • C Sequence analysis of the entire coding region

Skeletal diseases. NGS panel of 169 genes.

Genologica Medica
Spain
373169
  • C Sequence analysis of the entire coding region

Spinal muscular atrophy panel. 30-gene NGS panel.

Genologica Medica
Spain
6530
  • 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

TRPV4 - Gene sequencing

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
101
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
8530
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth disease: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
6854
  • C Sequence analysis of the entire coding region

Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
7654
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy NGS Panel

Fulgent Genetics
United States
9329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metatropic Dysplasia (TRPV4 Single Gene Test)

Fulgent Genetics
United States
101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposis NGS Panel

Fulgent Genetics
United States
17560
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Paroxysmal Extreme Pain Disorder NGS Panel

Fulgent Genetics
United States
18553
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TRPV4-Associated Disorders: gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
41
  • C Sequence analysis of the entire coding region

CHARCOT-MARIE-TOOTH DISEASE TYPE 2C

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

Neuromuscular Disorders NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
233144
  • C Sequence analysis of the entire coding region

CMT Advanced Evaluation - Nonprevalent Axonal

Athena Diagnostics
United States
1311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 63

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.