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Results: 1 to 20 of 30 (representing 15 labs)

Tests names and labsConditionsGenes and analytesMethods

Skeletal Disorders and Joint Problems Sequencing Panel

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MATN3. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

MATN3. Sequencing of the exon 2

Instituto de Medicina Genomica
Spain
11
  • E Sequence analysis of select exons

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 MATN3 Gene

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

EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
77
  • C Sequence analysis of the entire coding region

EPIPHYSEAL DYSPLASIA, MULTIPLE (AUTOSOMAL DOMINANT)

Laboratorio de Genetica Clinica SL
Spain
15
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Comprehensive Skeletal / Malformation Syndrome Panel

Blueprint Genetics
Finland
13429
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel

Blueprint Genetics
Finland
218
  • 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

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

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

CeGaT GmbH
Germany
2827
  • C Sequence analysis of the entire coding region

Multiple epiphyseal dysplasia type 1

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

Multiple epiphyseal dysplasia type 5

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

Single gene testing MATN3

CeGaT GmbH
Germany
21
  • C Sequence analysis of the entire coding region

Epiphyseal dysplasia multiple (NGS panel for 7 gene)

CGC Genetics
Portugal
17
  • C Sequence analysis of the entire coding region

Multiple epiphyseal dysplasia, MATN3 sequencing

Molecular Diagnostics Laboratory Seoul National University Hospital
South Korea
11
  • C Sequence analysis of the entire coding region

MATN3

Fulgent Genetics
United States
41
  • 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

Results: 1 to 20 of 30

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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