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Neutropaenia consistent with ELANE mutations

July 6, 2023 10:51 am Published by robhern

Monitoring for G(M)CSF escape mutations

10:51 am Published by robhern

Inherited predisposition to acute myeloid leukaemia (AML)

10:51 am Published by robhern

Haemoglobinopathy trait or carrier testing

10:51 am Published by robhern

Carrier testing for sickle cell disease

10:51 am Published by robhern

Nijmegen breakage syndrome

10:51 am Published by robhern

Cytopenia – Fanconi breakage testing indicated

10:51 am Published by robhern

Confirmed Fanconi anaemia or Bloom syndrome – mutation testing

10:51 am Published by robhern

Combined factor V and VIII deficiency

10:51 am Published by robhern

Fanconi anaemia or Bloom syndrome – chromosome breakage testing

10:51 am Published by robhern

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