Sequence analysis of the RUNX1 gene detects germline variants associated with autosomal dominant familial platelet disorder with predisposition to myeloid leukemia (FPD/AML) characterized by mild to moderate thrombocytopenia, qualitative platelet defects, and a predisposition to development of myeloid malignancies.
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 EDTA whole blood
Capture hybridization and Next Generation sequncing (MiSeq) with supplementary Sanger for quality and coverage or PCR Bi-directional DNA sequencing