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Results: 1 to 20 of 22

Tests names and labsConditionsGenes and analytesMethods

Stickler Syndrome Sequencing Panel

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

Multiple Epiphyseal Dysplasia Sequencing Panel

PreventionGenetics
United States
247
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Multiple Epiphyseal Dysplasia via the COL9A3 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal dysplasias

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

Multiple epiphyseal dysplasia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
77
  • C Sequence analysis of the entire coding region

Multiple epiphyseal dysplasia and pseudoachondroplasia Panel

CeGaT GmbH
Germany
108
  • C Sequence analysis of the entire coding region

Multiple epiphyseal dysplasia due to collagen 9 anomaly type 3

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

Stickler Syndrome

Asper Biotech Asper Biotech Ltd.
Estonia
66
  • C Sequence analysis of the entire coding region

Single gene testing COL9A3

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Multiple Epiphyseal Dysplasia Deletion/Duplication, 6 Genes

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
76
  • D Deletion/duplication analysis

Multiple Epiphyseal Dysplasia Sequencing, 6 Genes

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
76
  • C Sequence analysis of the entire coding region

Multiple Epiphyseal Dysplasia Panel, Sequencing and Deletion/Duplication, 6 Genes

ARUP Laboratories, Molecular Genetics University of Utah ARUP Lab
United States
76
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

COL9A3

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

Skeletal Dysplasias NGS panel

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

Multiple Epiphyseal Dysplasia NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
307
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
364163
  • C Sequence analysis of the entire coding region

Disproportionate Short Stature: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
19977
  • C Sequence analysis of the entire coding region

Multiple Epiphyseal Dysplasia: Sequencing Panel

Emory Genetics Laboratory Emory University
United States
277
  • C Sequence analysis of the entire coding region

Hearing Loss NGS Panel

Fulgent Clinical Diagnostics Lab Fulgent Diagnostics
United States
202103
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epiphyseal dysplasia, multiple, 3

MedGene
Slovakia
11
  • E Sequence analysis of select exons

Results: 1 to 20 of 22

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.