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About
About genomics
What is genomics?
How is genomics used in the NHS?
About the Genomic Medicine Service
Our GLH
Our GMSA
Meet the team
Clinical genetics
Our Work
GLH
Pathway transformation
Jewish BRCA
Sudden Cardiac Death
Generation study
Networks of Excellence
Prenatal genomic medicine
Circulating biomarker
Mainstreaming
Nursing and midwifery
Pharmacy
Mental health
Primary care
Our successes
ctDNA pilot project
100k Genomes
Transformation projects
Research
For healthcare professionals
Genetic test ordering
National genomic test directories
Request / Find a test tool
Whole Genome Sequencing
Consent
Turn-around times
Test order forms
Sending a sample
FAQs
Education and training
Training and resources catalogue
Curated collections
For our people and patients
Genomics and my healthcare
Genomics and my family
Our panel
Resources
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Events
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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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