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Results: 61 to 73 of 73

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

TRPV1 Single Gene

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

Cystinosis��� 

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

Cystinosis��� 

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

Lysosomal Storage Disease NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
7475
  • 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

CTNS Sequence analysis and 57 kb deletion analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystinosis

Laboratory of Human Genetics GENOMED Health Care Center
Poland
11
  • D Deletion/duplication analysis

Results: 61 to 73 of 73

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.