HAX1 mutation detection


Bidirectional sequencing of the coding and splice sites of exons1-7

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Additional information

Severe congenital neutropenia is characterised by a decrease in circulating neutrophils, bone marrow maturation arrest at the promyelocyte stage and the occurrence of infections. Recent reports suggest that some mutations are associated with neurological disorders. Mutations in HAX1 are not known to cause cyclic neutropenia. Mutations in HAX1 are inherited in an autosomal recessive mode amd are detected in approximately 30% of patients.

Sending address

Paediatric Malignancy Unit Great Ormond Street Hospital for Sick Children Level 2, Camelia Botnar Laboratories Great Ormond Street London WC1N 3JH

Laboratory service

Paediatric Malignancy Unit

Sample requirements

5 mls EDTA peripheral blood

Reference range

Not applicable

Turnaround time

20-30 working days

Disease / group

Severe congenital neurtopenia (SCN3),


Upon request

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Paediatric Malignancy Unit

The Paediatric Malignancy Unit is a unit providing a wide range of molecular genetic and cytogenetic diagnostic tests.

© 2011 Great Ormond Street Hospital for Children NHS Trust