Test Name & Code:
• Test Name: GCH1 Sequencing
• Test Code: 3872
• Test Code: 3872
Related Diseases & Genes:
• “DYSTONIA, DOPA-RESPONSIVE; DRD” (OMIM #: 128230) || Gene: CGH1 (OMIM #: 600225)
• “Hyperphenylalaninemia, BH4-deficient, B” (OMIM #: 233910)
• “Hyperphenylalaninemia, BH4-deficient, B” (OMIM #: 233910)
Synonyms:
• GTP CYCLOHYDROLASE I
• DYSTONIA 5; DYT5
• “DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION”
• DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION
• “SEGAWA SYNDROME, AUTOSOMAL DOMINANT”
• “DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT”
• DYSTONIA 5; DYT5
• “DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION”
• DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION
• “SEGAWA SYNDROME, AUTOSOMAL DOMINANT”
• “DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT”
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):
• Dysmorphology
• Neurogenetics
• Neurogenetics
