Test Name & Code:
• Test Name: Bernard Soulier Syndrome type A
• Test Code: 5751
• Test Code: 5751
Related Diseases & Genes:
• Bernard-Soulier syndrome, type A1 (recessive) (OMIM #: 231200) || Gene: GP1BA (OMIM #: 606672)
• Bernard Soulier Syndrome type A2 (dominant) (OMIM #: 153670)
• Bernard Soulier Syndrome type A2 (dominant) (OMIM #: 153670)
Synonyms:
-none-
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 3 weeks
• Performed: Everyday
• Reported: 3 weeks
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):
• Hematogenetics