Go Home
Bringing genomic testing and research together
Languages
Accessibility options
High Contrast
Greyscale
Negative Contrast
Reset
Search the website
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
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
Archives
Prev
Page
1
…
Page
31
Page
32
Page
33
Page
34
Page
35
…
Page
58
Next
-->
NIPD for spinal muscular atrophy – mutation testing
July 6, 2023 10:52 am
Published by
robhern
NIPD – pre-pregnancy test work-up
10:52 am
Published by
robhern
NIPD for Retinoblastoma
10:52 am
Published by
robhern
Bardet Biedl syndrome
10:52 am
Published by
robhern
Corneal dystrophy
10:52 am
Published by
robhern
NIPD for FGFR3-related skeletal dysplasias – mutation testing
10:52 am
Published by
robhern
NIPD for FGFR2-related craniosynostosis syndromes – mutation testing
10:52 am
Published by
robhern
NIPD for Crouzon syndrome with acanthosis nigricans – mutation testing
10:52 am
Published by
robhern
NIPD for Apert syndrome – mutation testing
10:52 am
Published by
robhern
NIPD for Duchenne and Becker muscular dystrophy – haplotype testing
10:52 am
Published by
robhern
Prev
Page
1
…
Page
31
Page
32
Page
33
Page
34
Page
35
…
Page
58
Next
Skip to toolbar
About WordPress
WordPress.org
Documentation
Learn WordPress
Support
Feedback
Search