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Results: 1 to 20 of 73

Tests names and labsConditionsGenes, analytes, and microbesMethods

TCF12 Gene Craniosynostosis type 3 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

TCF12 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuro-Onc Expanded Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1118
  • E Sequence analysis of select exons

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Solid Tumor Fusion Analysis

Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital
United States
1115
  • R RNA analysis

Craniosynostosis core Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
15
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis core Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
15
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Craniosynostosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
125
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis core NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
15
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
125
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polydactyly and Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
320231
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

FusionPlex Solid Tumor Panel

Clinical Genomics Laboratory Laboratory for Precision Diagnostics, University of Washington
United States
3114
  • R RNA analysis

Craniosynostosis 3, 615314, Autosomal dominant; CRS3 (Isolated brachycephaly) (TCF12 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

Craniosynostosis 3, 615314, Autosomal dominant; CRS3 (Isolated brachycephaly) (TCF12 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

Syndactyly Panel

PreventionGenetics, part of Exact Sciences
United States
220128
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CraniofacialZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
11045
  • C Sequence analysis of the entire coding region

qGenEx Intellectual disability

Quantitative Genomic Medicine Laboratories, SL
Spain
31969
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

Craniosynostosis NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
3126
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Craniosynostosis Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
3126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 73

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.