Description
Bidirectional sequecing of the coding and splice sites of exons 2-5
Also known as
ELA2, elastase,
Request a test
When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
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
Specialist Integrated Haematology and Malignancy Diagnostic Service- Acquired Genomics
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
Cost
Upon request
Call in advance?
Please call in advance to discuss requirements