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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

MATN3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spondyloepimetaphyseal dysplasia, 608728, Autosomal recessive (Spondyloepimetaphyseal dysplasia, matrilin-3 type) (MATN3 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Spondyloepimetaphyseal dysplasia, 608728, Autosomal recessive (Spondyloepimetaphyseal dysplasia, matrilin-3 type) (MATN3 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • 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

MATN3

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

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

Single gene testing MATN3

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

MATN3 Single Gene

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
543178
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Multiple Epiphyseal Dysplasia NGS Panel

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

Skeletal Dysplasia

Asper Biogene Asper Biogene LLC
Estonia
16674
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Spondyloepimetaphyseal dysplasia

MedGene
Slovakia
11
  • E Sequence analysis of select exons

Spondyloepimetaphyseal dysplasia

Praxis fuer Humangenetik Wien
Austria
11
  • E Sequence analysis of select exons

Results: 1 to 15 of 15

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.