Test Name & Code:
• Test Name: PAX6 Gene Sequence Analysis
• Test Code: 3497
• Test Code: 3497
Related Diseases & Genes:
• Aniridia (OMIM #: 106210) || Gene: PAX6 (OMIM #: 607108)
• Cataract with late-onset corneal dystrophy (OMIM #: 106210)
• Coloboma of optic nerve (OMIM #: 120430)
• Optic nerve hypoplasia (OMIM #: 165550)
• Cataract with late-onset corneal dystrophy (OMIM #: 106210)
• Coloboma of optic nerve (OMIM #: 120430)
• Optic nerve hypoplasia (OMIM #: 165550)
Synonyms:
• PAIRED BOX GENE 6
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
