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Results: 21 to 40 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

White Blood Cell Cystine

Baylor Genetics
United States
31
  • A Analyte

Panel of lysosomal disorders and mucopolysaccharidosis. NGS panel of 102 genes.

Genologica Medica
Spain
175102
  • C Sequence analysis of the entire coding region

Cystinosis: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
41
  • C Sequence analysis of the entire coding region

Cystinosis CTNS gene testing

Duzen Laboratories Duzen BBAGUAS
Turkey
41
  • C Sequence analysis of the entire coding region

Comprehensive Metabolism NGS Panel

Fulgent Genetics
United States
602355
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystinosis (CTNS Single Gene Test)

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abnormal Mineralization NGS Panel

Fulgent Genetics
United States
7730
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
716335
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Panel

Fulgent Genetics
United States
636298
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Plus Panel

Fulgent Genetics
United States
661306
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
690326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Cystinosis, Deletions-Duplications (MLPA) CTNS Gene

Reference Laboratory Genetics
Spain
31
  • D Deletion/duplication analysis

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

Results: 21 to 40 of 45

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.