Clinical and research tests for C1704375 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Renal Stone/Electrolyte Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	82	71	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypophosphatemic rickets (sequence analysis of ENPP1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
PHOSPHATE-REGULATING ENDOPEPTIDASE Laboratorio de Genetica Clinica SL Spain	1	2	D Deletion/duplication analysis
PHOSPHATE-REGULATING ENDOPEPTIDASE HOMOLOG, X-LINKED Laboratorio de Genetica Clinica SL Spain	1	2	D Deletion/duplication analysis
Abnormal Mineralization Panel GeneDx United States	6	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Liver Disease panel Genetic Services Laboratory University of Chicago United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypophosphatemic Rickets Genetics Laboratory University of Oklahoma Health Sciences Center United States	1	13	C Sequence analysis of the entire coding region
Hypophosphatemic rickets, XLD (PHEX) Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD Netherlands	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypophosphatasia and Hypophosphatemic Rickets Panel GeneDx United States	3	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CLCN5 Sequencing and Deletion/Duplication Analysis DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypophosphatemic rickets: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiomyopathy NGS Panel Fulgent Genetics United States	450	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan and RASopathies NGS Panel Fulgent Genetics United States	235	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Defect NGS Panel Fulgent Genetics United States	377	114	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary kidney disorders - different panels Institute of Human Genetics Cologne University Germany	32	481	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypophosphatemic Rickets Panel Genetic Services Laboratory University of Chicago United States	1	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypophosphatemic Rickets Panel Blueprint Genetics Finland	1	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasia with Abnormal Mineralization Panel Blueprint Genetics Finland	2	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NRAS Single Gene Fulgent Genetics United States	178	1	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.