Clinical and research tests for C0268689 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 17 of 17

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
Vitamin D-dependent rickets, type I, 264700, Autosomal recessive (Hypocalcemic vitamin D-dependent rickets) (CYP27B1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Vitamin D-dependent rickets, type I, 264700, Autosomal recessive (Hypocalcemic vitamin D-dependent rickets) (CYP27B1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Panel PreventionGenetics, part of Exact Sciences United States	20	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Abnormal Mineralization NGS Panel Fulgent Genetics United States	77	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic Kidney Stone Panel Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center Mayo Clinic United States	21	170	C Sequence analysis of the entire coding region
HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS (1-ALPHA-HYDROXYLASE DEFICIENCY) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region
Skeletal dysplasia with abnormal mineralization Panel CeGaT GmbH Germany	14	16	C Sequence analysis of the entire coding region
Vitamin D-dependent rickets, type I Bioarray Spain	1	1	C Sequence analysis of the entire coding region
CYP27B1 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Mito NGS Panel Fulgent Genetics United States	1103	676	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Rickets, Vitamin D-dependent MedGene Slovakia	1	1	C Sequence analysis of the entire coding region
Rickets, Vitamin D-dependent Praxis fuer Humangenetik Wien Austria	1	1	C Sequence analysis of the entire coding region
VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	C Sequence analysis of the entire coding region

Results: 1 to 17 of 17

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