Also Known as
ADAMTS13, Sequence Analysis
Sequence analysis of the ADAMTS13 gene detects germline variants associated with autosomal recessive congenital ADAMTS13 deficiency (also known as familial / inherited thrombotic thrombocytopenia purpura (TTP)) and Upshaw-Schulman syndrome.
Additional Test Information
EDTA Whole Blood, EDTA Bone Marrow, DNA, Buccal Swabs, Amniotic Fluid, Cultured Amniocytes, Direct or Cultured CVS
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 with supplementary PCR and bi-directional Sanger sequencing for quality and coverage.