Also Known as
F13A1, F13B, FGA, FGB, FGG, PLAU, SERPINA1, SERPINE1, SERPINF2
This genetic panel is optimized for the detection of germline variants in 9 genes known to cause delayed bleeding due to hyperfibrinolysis. This panel evaluates eight of the nine genes in this panel (F13A1, F13B, FGA, FGB, FGG, SERPINA1, SERPINE1, and SERPINF2( by next-generation sequencing. PLAU is evaluated by ACGH Deletion/Duplication Analysis in order to detect the heterozygous 78-kb tandem duplication responsible for the Quebec Platelet Disorder.
Additional Test Information
Amniotic Fluid, Buccal Swabs, Cultured Amniocytes, CVS, DNA, EDTA Bone Marrow, EDTA Whole Blood
2-5 mL EDTA Whole Blood or Bone Marrow (lavender top), 3-4 Buccal Swabs, 1 ug DNA at 50 ng/uL, 7-15 mL Amniotic fluid, 5-10 mg CVS, 2-T25 flasks cultured amniocytes or CVS (2x10^6 minimum)
Fetal: Call Laboratory; Parental/Patient: 2 mL
Capture hybridization and Next Generation Sequencing (miSeq) with supplementary Sanger for quality and coverage; aCGH for PLAU gene