Also Known as
Exon 28, Von Willebrand Factor
Genetic analysis is used to diagnose type 2M VWD in patients with a discrepancy between VWF activity and antigen not caused by abnormal multimer findings. While it can confirm a type 2B VWD diagnosis.
Additional Test Information
Fetal: Amniotic Fluid, CVS, Cultured Amniocytes or Cultured CVS; Parental/Patient: EDTA Whole Blood (lavender top)
Fetal: 7-15 ml Amniotic Fluid or 5-10 mg CVS, backup culture of Amniocytes or CVS is highly reccomneded; Two T25 flasks Cultured Amniocytes or CVS (2x10^6 minimum); Parental/Patient: 3-5 ml
Fetal: Call laboratory; Parental/Patient: 2ml
Capture Hybridization and Next Generation Sequencing (MiSeq) with supplementary Sanger for quality and coverage or PCR and Bi-directional DNA Sequencing