Test Name & Code:
• Test Name: FOXL2 Mutation
• Test Code: 2167
• Test Code: 2167
Related Diseases & Genes:
• Blepharophimosis, epicanthus inversus, and ptosis, type 1 (OMIM #: 110100) || Gene: FOXL2 (OMIM #: 605597)
• Blepharophimosis, epicanthus inversus, and ptosis, type 2 (OMIM #: 110100)
• Premature ovarian failure 3 (OMIM #: 608996)
• Blepharophimosis, epicanthus inversus, and ptosis, type 2 (OMIM #: 110100)
• Premature ovarian failure 3 (OMIM #: 608996)
Synonyms:
• FORKHEAD TRANSCRIPTION FACTOR FOXL2
• PITUITARY FORKHEAD FACTOR, MOUSE, HOMOLOG OF; PFRK
• PITUITARY FORKHEAD FACTOR, MOUSE, HOMOLOG OF; PFRK
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 7-10 days
• Performed: Everyday
• Reported: 7-10 days
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):
• Dsymorphology
