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Results: 1 to 20 of 47

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

ECEL1 Gene Arthrogryposis, distal, type 5D NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning 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

Congenital contracture syndrome extended Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal arthrogryposes Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital contracture syndrome extended NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal arthrogryposes NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
110
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital contracture syndrome extended Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal arthrogryposes Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
110
  • 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

Distal arthrogryposes Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal arthrogryposes Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
110
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Distal arthrogryposes NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
110
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital contracture syndrome extended Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital contracture syndrome extended Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Congenital contracture syndrome extended NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
1031
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Results: 1 to 20 of 47

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.