Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Thanksgiving, GeneDx will be closed and will not accept specimens on Thursday, November 26, 2015. We will accept specimens but operate on a modified schedule on Friday, November 27, 2015.  We will resume our normal schedule on Saturday, November 28, 2015.  If you have any questions or inquiries, please call us at 301-519-2100 or email us at

HAX1 Gene Sequencing



Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
Lab Method:
Capillary Sequencing


Test Code:
Turnaround Time:
4-5 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots, Buccal Brushes


CPT Codes:
New York Approved:
ABN Required:
Billing Information:
View Billing Policy
* For ICD9 to ICD10 conversion please follow this link
ICD-9 Codes:
  • 288: Neutropenia Decreased, Absolute Neutrophil Count (ANC); Use additional code for any associated: fever (780.61), mucositis (478.11, 528.00-528.09, 538, 616.81) (776.7)
* For price inquiries please email


  1. 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
  2. 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
  3. Germeshausen M, et al. Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype correlations, Blood 111:4954, 2008
  4. 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
  5. Klein C., et al, HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease), Nature Genetics 39:86-90, 2007
  6. Kostmann, R. Infantile genetic agranulocytosis (Agranulocytosis infantilis hereditaria): a new recessive lethal disease in man, Acta Paediatr. 45 (suppl) 1-78. 1956

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