Bidirectional sequencing of codons of interest - In development

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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test. Download the referral form >

Additional information

Mutations in the G-CSF receptor gene are reported in SCN patients mainly in those who transform to secondary MDS or AML. These nonsense mutations are restricted to 5 codons which are screened for using direct sequencing. All mutations are a C>T substitution resulting in a stop codon. Mutations are heterozygous.

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 or bone marrow

Reference range

Not applicable

Turnaround time

In Development

Disease / group

Neutropenia, Severe congenital neurtopenia,


Upon request

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Please call in advance to discuss requirements

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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