PTPN11 mutation detection


Bidirectonal sequeucning of exons 3 and 13

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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

Juvenile myelomonocytic leukaemia (JMML) is an aggressive myeloproliferative disorder (MPD) characterized by the over-production of myeloid lineage cells. Children with neurofibromatosis type 1 (NF1) and Noonan syndrome are at increased risk of developing JMML. Approximately 35% of patients with JMML have a mutation in PTPN1.

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 working days

Disease / group

Juvenile Myelomonocytic Leukemia


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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