G6PC3 mutation detection


Bidirectional sequecing of the coding and splice sites of exons1-6

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Additional information

G6PC3 mutations are inherited in an autosomal recesive mode and are associated with enhanced neutrophil apoptosis and endoplasmic reticulum stress. Mutations are detected in approximaltely 10% 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

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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