Clinical and research tests for C0010278 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 15 of 15

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Craniosynostosis core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	5	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	1	25	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	1	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis, type 1 Comprehensive test HNL Genomics Connective Tissue Gene Tests United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis, type 1 Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States	1	1	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	1	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis core Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
PGmax™ - Skeletal Disorders and Joint Problems Panel PreventionGenetics, part of Exact Sciences United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniofacial Panel Genetic Services Laboratory University of Chicago United States	31	35	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis Panel GeneDx United States	1	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis Panel Blueprint Genetics Finland	1	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Craniosynostosis Panel Invitae United States	14	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TWIST - Gene Sequencing & Del/Dup analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	3	1	D Deletion/duplication analysis E Sequence analysis of select exons T Targeted variant analysis
FGFR2 sequencing Molecular Diagnostics Laboratory Seoul National University Hospital South Korea	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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.