Sequence analysis of the ELANE gene detects germline variants associated with autosomal dominant severe congenital neutropenia and cyclic neutropenia.
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