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Results: 21 to 32 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cystinosis

Institute of Human Genetics Cologne University
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Storage and Energetic Metabolism Diseases , Panel Massive Sequencing (NGS) 82 genes

Reference Laboratory Genetics
Spain
10882
  • 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

Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes

Reference Laboratory Genetics
Spain
10978
  • C Sequence analysis of the entire coding region

CYSTINOSIS

Laboratorio de Genetica Clinica SL
Spain
31
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Male)

Baylor Genetics
United States
164149
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GeneAware Complete Panel Version 2 (Female)

Baylor Genetics
United States
175159
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cystinosis Test

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

CTNS Single Gene

Fulgent Genetics
United States
31
  • 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

Lysosomal Disorders NGS Panel

Fulgent Genetics
United States
186106
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystinosis, late-onset juvenile or adolescent nephropathic

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 21 to 32 of 32

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