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Results: 1 to 20 of 33

Tests names and labsConditionsGenes and analytesMethods

Tempus xO assay

Tempus Labs, Inc.
United States
11698
  • R RNA analysis
  • C Sequence analysis of the entire coding region

Rickets, vitamin D-resistant, type IIA

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal mineralization disorders Deletion/ Duplication Panel

Connective Tissue Gene Tests
United States
215
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal mineralization disorders Comprehensive Panel

Connective Tissue Gene Tests
United States
215
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypophosphatemic Rickets Deletion/Duplication Panel

Genetic Services Laboratory University of Chicago
United States
610
  • D Deletion/duplication analysis

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection

PreventionGenetics
United States
327258
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

ExomePLUS Electrolyte & Kidney Stone

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
4649
  • C Sequence analysis of the entire coding region

Nephrolithiasis and Nephrocalcinosis Sequencing Panel with CNV Detection

PreventionGenetics
United States
3330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

KidneySeq - 264 Genes

Iowa Institute of Human Genetics University of Iowa
United States
102253
  • C Sequence analysis of the entire coding region

VDR Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
21
  • T Targeted variant analysis

VDR Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
21
  • C Sequence analysis of the entire coding region

Rickets, vitamin D-resistant, type IIA

Laboratorio de Genetica Clinica SL
Spain
11
  • S Mutation scanning of the entire coding region

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
2308
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephrolithiasis Panel

Blueprint Genetics
Finland
535
  • D Deletion/duplication analysis
  • 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

Osteoporosis Susceptibility to , Panel Massive Sequencing (NGS) 5 Genes

Reference Laboratory Genetics
Spain
25
  • -- Sequence analysis of the entire coding region

Abnormal mineralization disorders NGS panel

Connective Tissue Gene Tests
United States
215
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Skeletal Dysplasias and Disorders Panel

Blueprint Genetics
Finland
1246
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias Core Panel

Blueprint Genetics
Finland
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary kidney disorders - different panels

Institute of Human Genetics Cologne University
Germany
28411
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.

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