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Results: 41 to 54 of 54

Tests names and labsConditionsGenes, analytes, and microbesMethods

Craniofacial Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
4744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
2622
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

Single gene testing RUNX2

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

Syndromes with immunodeficiency Panel

CeGaT GmbH
Germany
3338
  • C Sequence analysis of the entire coding region

Cleidocranial dysplasia

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

RUNX2 full sequence

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

RUNX2 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
4847
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
4847
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RUNX2 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cleidocranial Dysplasia

Bioscientia GmbH Center for Human Genetics
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 54 of 54

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.