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Results: 21 to 40 of 70

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cystinosis, nephropathic, 219800, Autosomal recessive (Cystinosis) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cystinosis, nephropathic, 219800, Autosomal recessive (Cystinosis) (CTNS gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Cystinosis, nephropathic, 219800, Autosomal recessive (Cystinosis) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cystinosis, atypical nephropathic, 219800, Autosomal recessive; CTNS (Cystinosis) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cystinosis, atypical nephropathic, 219800, Autosomal recessive; CTNS (Cystinosis) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cystinosis, atypical nephropathic, 219800, Autosomal recessive; CTNS (Cystinosis) (CTNS gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Cystinosis, nephropathic, 219800, Autosomal recessive (Cystinosis) (CTNS gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Progressive Renal Disease Panel

Invitae
United States
310195
  • D Deletion/duplication analysis

Invitae Hypophosphatemia Panel

Invitae
United States
2317
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Lysosomal Storage Disorders Panel

Invitae
United States
8757
  • D Deletion/duplication analysis

Invitae Osteogenesis Imperfecta and Bone Fragility Panel

Invitae
United States
12065
  • D Deletion/duplication analysis

Cystine (intracellular)

Biochemical Genetics Laboratory University of California San Diego
United States
31
  • A Analyte

Cystinosis via the CTNS Gene

PreventionGenetics, part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cystinosis via the CTNS gene, 57-kb Deletion

PreventionGenetics, part of Exact Sciences
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Lysosomal Storage Diseases Gene Panel

Duzen Laboratories Duzen BBAGUAS
Turkey
5043
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 70

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.