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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Renal Stone/Electrolyte Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
8271
  • 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
11
  • 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
11
  • C Sequence analysis of the entire coding region

Hypophosphatasia (HPP) and Inherited Hypophosphatemic Rickets Panel

PreventionGenetics, part of Exact Sciences
United States
2011
  • 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
4637
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Abnormal Mineralization NGS Panel

Fulgent Genetics
United States
7730
  • 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
21144
  • C Sequence analysis of the entire coding region

Abnormal Mineralization , Panel Massive Sequencing (NGS) 28 Genes

Reference Laboratory Genetics
Spain
3428
  • C Sequence analysis of the entire coding region

Hypophosphatemic Rickets , Panel Massive Sequencing (NGS) 7 Genes

Reference Laboratory Genetics
Spain
97
  • C Sequence analysis of the entire coding region

HYPOCALCEMIC VITAMIN D-DEPENDENT RICKETS (1-ALPHA-HYDROXYLASE DEFICIENCY)

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Hereditary Hypocalcemic Rickets Vitamin D Dependent, Sequencing CYP27B1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Skeletal dysplasia with abnormal mineralization Panel

CeGaT GmbH
Germany
1416
  • C Sequence analysis of the entire coding region

Vitamin D-dependent rickets, type I

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

CYP27B1 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rickets, Vitamin D-dependent

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Rickets, Vitamin D-dependent

Praxis fuer Humangenetik Wien
Austria
11
  • 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
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.