Also Known as
Glycoprotein Ib/IX sequencing
Sequence analysis of GP1ba, GP1BB, and GPIX genes detects germline variants associated with Bernard-Soulier Syndrome an autosomal recessive disorder caused by bdeficiency in platelet glycoprotein (GP) Ib/IX ad characterized by macrothrombocytopenia and severe bleeding.
Additional Test Information
Amniotic Fluid, Buccal Swabs, Cultured Amniocytes, CVS, DNA, EDTA Bone Marrow, EDTA Whole Blood
3-5 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 or PCR and Bi-directional DNA sequencing.