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Disease Name: Poikiloderma with neutropenia
Genes Covered:CEBPE, CSF2RA, CSF3R, CYBA, CYBB, ELANE, FERMT3, G6PC3, GATA2, GFI1, HAX1, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ITGB2, MAN2B1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, STAT1, TAZ, USB1, VPS13B, WAS
Panel: Strand Clinical Exome Test
Disorder Category: Congenital defects of phagocyte number and function
Turnaround Time: 5-6 weeks from receipt of sample in the lab