G6PC3 mutation detection


Description

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


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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

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


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.

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