What conditions can we test for?
The London North Genomic Laboratory hub can test for rare diseases and cancers.
The National Genomic Test Directory lists the medical conditions where there is clear evidence for the value of genomic testing for patients. This is mainly in cancer and rare and inherited disorders.
If the London North Genomic Laboratory hub does not list testing for a condition that is included in the National Genomic Test Directory then we will be are able to send it to another hub to be tested there. They will then return the results to us.
Testing for specialist areas have been divided into 17 groups and these tests will be delivered by between two and four GLHs with specialist expertise in these areas.
The London North GLH will be responsible for delivering a number of the specialist test categories, as listed below, but all patients across England will have equal access to testing regardless of which GLH is performing the analysis.
Specialist testing to be delivered sub-nationally in London North GLH will be for the following conditions:
Non-invasive prenatal diagnosis
The rare diseases that will be tested for using Whole Genome Sequencing nationally will be:
Ultra-rare and atypical monogenic disorders
Congenital malformation and dysmorphism syndromes – microarray and sequencing
Intellectual disability – microarray, fragile X and sequencing
Hypnotic infant with a likely central cause
Rare syndromic craniosynostosis or isolated multisuture synostosis
Likely inborn error of metabolism – targeted testing not possible
Hereditary ataxia with onset in adulthood
Hereditary ataxia with onset in childhood
Early onset or syndromic epilepsy
Childhood onset hereditary spastic paraplegia
Other rare neuromuscular disorders
Holoprosencephaly – NOT chromosomal
Childhood onset leukodystrophy
Cystic renal disease
For further information see the National Genomic Test Directory for rare and inherited diseases
The five cancer tumour groups being tested are:
- Solid tumours (adult)
- Solid tumours (paediatric)
- Neurological tumours
- Haematological tumours
For further information see the National Genomic Test Directory for cancer