Forms and Documents
- Confirmation of a clinical diagnosis
- Prenatal diagnosis
*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.
- 288 Diseases of white blood cells Excludes: leukemia (204.0-208.9)
**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
- Smith BN, et al, Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. Br J Haematol 144:762, 2009
- Carlsson G, et al, Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1mutations, J Int Med 264:388, 2008
- Germeshausen M, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype correlations, Blood 111:4954, 2008
- Matsubara K, et. al, Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency, Haematologica 92(12):e123-5, 2007
- Klein C., et al, HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease), Nature Genetics 39:86-90, 2007
- Kostmann, R. Infantile genetic agranulocytosis (Agranulocytosis infantilis hereditaria): a new recessive lethal disease in man, Acta Paediatr. 45 (suppl) 1-78. 1956