Genetic TestsTWIST1 Mutation Analysis

• Test Name: TWIST1 Mutation Analysis
• Test Code: 3230

• Craniosynostosis, type 1 (OMIM #: 123100) || Gene: TWIST1 (OMIM #: 601622)
• Robinow-Sorauf syndrome (OMIM #: 180750)
• Saethre-Chotzen syndrome (OMIM #: 101400)
• Saethre-Chotzen syndrome with eyelid anomalies (OMIM #: 101400)

• TRANSCRIPTION FACTOR TWIST;
• TWIST

• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 2-3 weeks

• 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

• Dysmorphology
• Neurogenetics