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Results: 21 to 40 of 52

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

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

Stickler Syndrome Panel

PreventionGenetics, Part of Exact Sciences
United States
3012
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Multiple Epiphyseal Dysplasia via the COL9A3 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

Retinal dystrophy panel. 260 gene NGS panel.

Genologica Medica
Spain
420257
  • 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

Cleft lip panel, cleft palate and associated syndromes. 16-gene NGS panel.

Genologica Medica
Spain
4916
  • C Sequence analysis of the entire coding region

Stickler syndrome panel. 8-gene NGS panel.

Genologica Medica
Spain
308
  • C Sequence analysis of the entire coding region

Vitreoretinopathy panel. 23-gene NGS panel.

Genologica Medica
Spain
6323
  • C Sequence analysis of the entire coding region

Stickler Syndrome Panel, Sequencing

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
87
  • C Sequence analysis of the entire coding region

Comprehensive Short Stature Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
8260
  • C Sequence analysis of the entire coding region

Stickler Syndrome Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
286
  • C Sequence analysis of the entire coding region

Connective Tissue Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
11245
  • C Sequence analysis of the entire coding region

Syndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
22383
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss NGS Panel

Fulgent Genetics
United States
332167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vitreoretinopathy

Asper Biogene Asper Biogene LLC
Estonia
5520
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes

Reference Laboratory Genetics
Spain
7236
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 52

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.