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Results: 1 to 20 of 27

Tests names and labsConditionsGenes and analytesMethods

Spondylo-Epi-Metaphyseal dysplasias NGS panel

Connective Tissue Gene Tests
United States
7751
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel

Connective Tissue Gene Tests
United States
7751
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel

Connective Tissue Gene Tests
United States
7751
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

FGFR2, COMP, COL11A1, COL11A2, EVC, TRIP11, EVC2. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
207
  • C Sequence analysis of the entire coding region

Stickler Syndrome Sequencing Panel

PreventionGenetics
United States
279
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Stickler Syndrome Type III, Otospondylomegaepiphyseal Dysplasia, Weissenbacher-Zweymuller Syndrome, and Deafness, Autosomal Dominant 13 via the COL11A2 Gene

PreventionGenetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hearing Loss: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
15991
  • D Deletion/duplication analysis

Vitreoretinopathy

Asper Biogene Asper Biogene LLC
Estonia
5519
  • C Sequence analysis of the entire coding region

Eye Disorders: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
321207
  • D Deletion/duplication analysis

Disproportionate Short Stature: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
19876
  • C Sequence analysis of the entire coding region

Weissenbacher-Zweymuller Syndrome , Sequencing COL11A2 Gene

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

Vitreoretinopathy panel

Molecular Vision Laboratory
United States
3719
  • C Sequence analysis of the entire coding region

TRIM54

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GADD45G

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal dysplasias

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
7936
  • C Sequence analysis of the entire coding region

NGS panel - Stickler syndrome and related disorders

Genome Diagnostics VU University Medical Center
Netherlands
78
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

COL11A2

Fulgent Genetics
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Hearing Loss: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
197131
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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.

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