G-CSFR


Description

Bidirectional sequencing of codons of interest - In development


Request a test

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,


Cost

Upon request


Call in advance?

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.

© 2011 Great Ormond Street Hospital for Children NHS Trust