Test Name & Code:
• Test Name: ARX Mutation Analysis
• Test Code: 3567
• Test Code: 3567
Related Diseases & Genes:
• “Epileptic encephalopathy, early infantile, 1” (OMIM #: 308350) || Gene: ARX (OMIM #: 300382)
• “Lissencephaly, X-linked 2, Hydranencephaly with abnormal genitalia” (OMIM #: 300215)
• Proud syndrome (OMIM #: 300004)
• “Mental retardation, X-linked 29 and others” (OMIM #: 300419)
• Partington syndrome (OMIM #: 309510)
• “Lissencephaly, X-linked 2, Hydranencephaly with abnormal genitalia” (OMIM #: 300215)
• Proud syndrome (OMIM #: 300004)
• “Mental retardation, X-linked 29 and others” (OMIM #: 300419)
• Partington syndrome (OMIM #: 309510)
Synonyms:
• “ARISTALESS-RELATED HOMEOBOX, X-LINKED”
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: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 3 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Dysmorphology
• Neurogenetics
• Neurogenetics
