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Results: 21 to 40 of 49

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

Desbuquois dysplasia core NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
24
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia core Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
24
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Desbuquois dysplasia core Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
24
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia and related disorders NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Desbuquois dysplasia and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
311
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Disorders of Glycosylation Panel

Invitae
United States
203152
  • 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

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

Genologica Medica
Spain
6928
  • 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

Congenital Disorders of Glycolysation

Asper Biogene Asper Biogene LLC
Estonia
5349
  • C Sequence analysis of the entire coding region

Desbuquois dysplasia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Larsen Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 5 Genes

Reference Laboratory Genetics
Spain
55
  • C Sequence analysis of the entire coding region

Optic Atrophy & Early Glaucoma NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
4034
  • C Sequence analysis of the entire coding region

Desbuquois Dysplasia , Sequencing CANT1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Glaucoma

Asper Biogene Asper Biogene LLC
Estonia
1920
  • C Sequence analysis of the entire coding region

Potentially lethal skeletal disorders Panel

CeGaT GmbH
Germany
4544
  • C Sequence analysis of the entire coding region

Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel

CeGaT GmbH
Germany
2727
  • C Sequence analysis of the entire coding region

Desbuquois dysplasia

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 49

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.