Also Known as
AP3B1, CSF3R, CXCR4, ELANE, G6PC3, GATA1, GATA2, GFI1, HAX1, JAGN1, LAMTOR2, LYST, RAB27A, RAC2, SBDS, SLC37A4, TAZ, TCIRG1, USB1, VPS13B, VPS45, WAS, WIPF1
This genetic panel is optimized for detection of germline variants in 23 genes known to cause severe congenital neutropenia (SCN), cyclic neutropenia, and syndromic neutropenia with non-hematological manifestations.
Additional Test Information
Amniotic Fluid, Buccal Swabs, Cultured Amniocytes, CVS, DNA, EDTA Bone Marrow, EDTA Whole Blood
2-5 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)