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, VWD Type 2A/2B Reflex Sequence Analysis is suggested.
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 recommended; Two T25 flasks Cultured Amniocytes or CVS (2x10^6 minimum); Parental/Patient: 3-5 ml
Fetal: Call Laboratory; Parental/Patient: 2 ml
PCR and Bi-directional DNA Sequencing