ELANE mutation detection


Bidirectional sequecing of the coding and splice sites of exons 2-5

Also known as

ELA2, elastase,

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Additional information

Severe congenital neutropenia and cyclic neutropenia are severe disorders of neutrophil production. These cause recurrent infection. Congenital neutropenia is charterised by very low non-oscillating neutrophil counts. Mutations in the ELANE gene encoding neutrophil elastase (NE) have been identified in 90-100% of patients with cyclical neutropenia and 38-80% of patients with congenital neutropenia. The mutations can be either sporadic or inherited in an autosomal dominant mode.

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

Neutropenia, Severe congenital neurtopenia, cyclic neutropenia


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.

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