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The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

R100

Rare syndromic craniosynostosis or isolated multisuture synostosis Musculoskeletal

R101

Ehlers Danlos syndrome with a likely monogenic cause Musculoskeletal

R102

Osteogenesis imperfecta Musculoskeletal

R104

Skeletal dysplasia Musculoskeletal

R105

MCADD – Medium-chain acyl-CoA dehydrogenase deficiency – common variant Screening

R106

Alstrom syndrome Endocrinology

R107

Bardet Biedl syndrome Ophthalmology

R109

Childhood onset leukodystrophy Neurology

R110

Segmental overgrowth disorders – Deep sequencing Dermatology

R111

X-inactivation testing Core/Specialised

Go to Service Turnaround Times