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Results: 1 to 20 of 25 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

ExomePLUS Electrolyte & Kidney Stone

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
4549
  • C Sequence analysis of the entire coding region

Exome PLUS Proteinuria/FSGS & Hematuria

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
2932
  • C Sequence analysis of the entire coding region

Nephrolithiasis and Nephrocalcinosis Sequencing Panel

PreventionGenetics
United States
3230
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dent Disease Sequencing Panel

PreventionGenetics
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Dent Disease via the CLCN5 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CLCN5. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • 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

DENT SYNDROME/ HYPERCALCEMIC NEPHROLITHIASIS/ FAMILIAL UROLITIASIS

Laboratorio de Genetica Clinica SL
Spain
21
  • C Sequence analysis of the entire coding region

Dent Disease Type 1, Sequencing CLCN5 Gene

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

Bone Disorder/O.I. Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
11162
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CLCN5 Gene Sequencing

GeneDx
United States
11
  • S Mutation scanning of the entire coding region

Dent disease: sequencing of CLCN5 and OCRL genes

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
22
  • C Sequence analysis of the entire coding region

CLCN5

Fulgent Genetics
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasias NGS panel

Fulgent Genetics
United States
370161
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Skeletal Dysplasia: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
364163
  • C Sequence analysis of the entire coding region

Osteogenesis Imperfecta and Decreased Bone Density: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
8134
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
601504
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Dent disease type I (sequence analysis of CLCN5 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 25

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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