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Results: 1 to 13 of 13 (representing 8 labs)

Tests names and labsConditionsGenes and analytesMethods

Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Cleidocranial Dysplasia (CCD) via the RUNX2 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis

Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center
United States
6626
  • C Sequence analysis of the entire coding region

Single gene testing RUNX2

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

Metaphyseal dysplasia Panel

CeGaT GmbH
Germany
78
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal

ARUP Laboratories, Molecular Genetics and Genomics
United States
4839
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes)

ARUP Laboratories, Molecular Genetics and Genomics
United States
4839
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RUNX2

Fulgent Genetics
United States
21
  • 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

Disproportionate Short Stature: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
19977
  • C Sequence analysis of the entire coding region

Results: 1 to 13 of 13

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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