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About
Introduction to the GMS
What is genomics?
How is it used in the NHS
About the Genomic Medicine Service
Our GLH
Our GMSA
Meet the team
Clinical Genetic
Our Work
GLH
Pathway transformation
ctDNA
JBRCA
SCD
Generation study
Networks of Excellence
Prenatal genomic medicine
Mainstreaming
Nursing and midwifery
Pharmacy
Mental health
Primary care
Our successes
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
News and events
Our events calendar
NT GMS News
Careers
Genomics careers
Work for us
Contact
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Severe combined immunodeficiency with PNP deficiency
July 6, 2023 10:51 am
Published by
robhern
Agammaglobulinaemia with absent BTK expression
10:51 am
Published by
robhern
Haemophagocytic syndrome with absent perforin expression
10:51 am
Published by
robhern
Wiskott-Aldrich syndrome
10:51 am
Published by
robhern
Autoimmune lymphoproliferative syndrome with defective apoptosis
10:51 am
Published by
robhern
Primary immunodeficiency or monogenic inflammatory bowel disease
10:51 am
Published by
robhern
Autoimmune Polyendocrine Syndrome
10:51 am
Published by
robhern
Severe combined immunodeficiency with adenosine deaminase deficiency
10:51 am
Published by
robhern
Lymphoproliferative syndrome with absent SAP expression
10:51 am
Published by
robhern
Haemophagocytic syndrome with absent XIAP expression
10:51 am
Published by
robhern
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