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

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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 NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	25	C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis core NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	5	C Sequence analysis of the entire coding region T Targeted variant analysis
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, type 1 Sequencing test HNL Genomics Connective Tissue Gene Tests United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
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
Craniosynostosis core NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	5	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 Mendelics Brazil	1	4	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
Craniosynostosis Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	16	23	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
FGFR2 - Gene sequencing Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	5	1	C Sequence analysis of the entire coding region T Targeted variant analysis

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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.