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HAX1 Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
HAX1
Disorders:
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Prenatal diagnosis
Lab Method:
Exon Array CGH

ORDERING

Test Code:
906
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
84311x1, 88271x10, 88291x1
New York Approved:
Yes
ABN Required:
Yes
Billing Information:
View Billing Policy
ICD 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 zebras@genedx.com

REFERENCES

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

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