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Results: 1 to 20 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

COMP - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Skeletal Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
624349
  • D Deletion/duplication analysis

Multiple epiphyseal dysplasia (MED) NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
87
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple epiphyseal dysplasia (MED) Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple epiphyseal dysplasia NGS Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple epiphyseal dysplasia Comprehensive Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple epiphyseal dysplasia Deletion / Duplication Test

HNL Genomics Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Epi-Metaphyseal dysplasias NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
7954
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
7954
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
7954
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple epiphyseal dysplasia (MED) Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
87
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple epiphyseal dysplasia (MED) NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
88
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple Epiphyseal Dysplasia Panel

PreventionGenetics, part of Exact Sciences
United States
2910
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

COMP-Related Disorders via the COMP Gene

PreventionGenetics, part of Exact Sciences
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Central skeletal dysplasias panel. NGS panel of 111 genes.

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

Epiphyseal dysplasia, multiple: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
77
  • C Sequence analysis of the entire coding region

Pseudoachondroplasia (COMP Single Gene Test)

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Ciliopathies

Asper Biogene Asper Biogene LLC
Estonia
2823
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 32

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.