Clinical and research tests for C0001193 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Congenital Limb Malformation Panel PreventionGenetics, part of Exact Sciences United States	103	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	31	26	C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	31	26	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	31	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Facial Dysostosis Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	33	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	19	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
FGFR2-Related Disorders via the FGFR2 Gene PreventionGenetics, part of Exact Sciences United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniodysmorphology Screen (Targeted FGFR1,2, and 3) Center for Genetics at Saint Francis Saint Francis Hospital United States	7	3	E Sequence analysis of select exons T Targeted variant analysis
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain	113	37	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Apert syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
FGFR 2 sequencing Duzen Laboratories Duzen BBAGUAS Turkey	5	1	C Sequence analysis of the entire coding region
FGFR2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	9	1	D Deletion/duplication analysis
Custom XomeDx Slice – Disorders of Sex Development (Proband Only) GeneDx United States	21	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FGFR2 Institute for Human Genetics University Medical Center Freiburg Germany	11	1	C Sequence analysis of the entire coding region
Apert Syndrome (FGFR2 Single Gene Test) Fulgent Genetics United States	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Facial Dysostosis and Related Disorders NGS Panel Fulgent Genetics United States	85	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Craniosynostosis NGS Panel Fulgent Genetics United States	339	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Kidney Dysplasia NGS Panel Fulgent Genetics United States	68	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.