Conditions covered

What rare diseases and cancers can we test for?

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.

Conditions covered

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:





Inherited cancer






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

Skeletal dysplasia

Rare syndromic craniosynostosis or isolated multisuture synostosis

Neonatal diabetes

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

Cerebellar anomalies

Holoprosencephaly – NOT chromosomal


Cerebral malformation

Severe microcephaly

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
  • Sarcomas
  • Haematological tumours

For further information see the National Genomic Test Directory for cancer