Test Name & Code:
• Test Name: TUBB3 Gene Sequence Analysis
• Test Code: 3493
• Test Code: 3493
Related Diseases & Genes:
• “Cortical dysplasia, complex, with other brain malformations” (OMIM #: 614039) || Gene: TUBB3 (OMIM #: 602661)
• “Fibrosis of extraocular muscles, congenital, 3A” (OMIM #: 600638)
• “Fibrosis of extraocular muscles, congenital, 3A” (OMIM #: 600638)
Synonyms:
• “TUBULIN, BETA-3”
• TUBB4
• “TUBULIN, BETA, CLASS III”
• TUBB4
• “TUBULIN, BETA, CLASS III”
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2-3 weeks
• Performed: Everyday
• Reported: 2-3 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
• Ophthalmogenetics
• Neurogenetics
• Ophthalmogenetics
• Neurogenetics
