Test Name & Code:
• Test Name: Cystinosis CTNS Gene Testing
• Test Code: 5746
• Test Code: 5746
Related Diseases & Genes:
• “Cystinosis, atypical nephropathic” (OMIM #: 219800) || Gene: CTNS (OMIM #: 606272)
• “Cystinosis, late-onset juvenile or adolescent nephropathic” (OMIM #: 219800)
• “Cystinosis, nephropathic” (OMIM #: 219800)
• “Cystinosis, ocular nonnephropathic” (OMIM #: 219800)
• “Cystinosis, late-onset juvenile or adolescent nephropathic” (OMIM #: 219800)
• “Cystinosis, nephropathic” (OMIM #: 219800)
• “Cystinosis, ocular nonnephropathic” (OMIM #: 219800)
Synonyms:
• CYSTINOSIN
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 4 weeks
• Performed: Everyday
• Reported: 4 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Neurogenetics
• Inborn Errors of Metabolism
• Inborn Errors of Metabolism
