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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

Distal Arthrogryposis Panel

Genetic Services Laboratory University of Chicago
United States
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuromuscular Panel

Centogene AG - the Rare Disease Company
Germany
325316
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Arthrogryposis, distal, type 5D, 615065, Autosomal recessive; DA5D (Distal arthrogryposis type 5D) (ECEL1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Arthrogryposis, distal, type 5D, 615065, Autosomal recessive; DA5D (Distal arthrogryposis type 5D) (ECEL1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Strabismus Syndrome or Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Panel

PreventionGenetics, Part of Exact Sciences
United States
1414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Neuromuscular Panel

PreventionGenetics, Part of Exact Sciences
United States
183142
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Arthrogryposis Panel

PreventionGenetics, Part of Exact Sciences
United States
1311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal Arthrogryposis Type 5D (DA5D) via the ECEL1 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

Arthrogryposis panel. NGS panel of 69 genes.

Genologica Medica
Spain
13569
  • 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

Arthrogryposis, distal: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
139
  • C Sequence analysis of the entire coding region

ARTHROGRYPOSIS DISTAL, TYPE 5D

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

Congenital Contractures NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
8157
  • C Sequence analysis of the entire coding region

Results: 1 to 15 of 15

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.