Disorders

Severe Congenital Neutropenia, Autosomal Recessive, 3

Synonym(s): Kostmann Disease

Gene	Locus	Protein
HAX1	1q21.3	HCLS1-associated protein X-1

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
BloodCenter of Wisconsin, Platelet and Neutrophil Immunology Laboratory - Milwaukee, WI, USA
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.