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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.

R401

Common aneuploidy testing – prenatal Core

R137

Congenital heart disease – microarray Core

R185

Cystic fibrosis carrier testing Core

R184

Cystic fibrosis diagnostic test Core

R22

Fetus with a likely chromosomal abnormality Core

R94

HbSS sickle cell anaemia Haematology

R268

Kagami-Ogata syndrome – paternal uniparental disomy 14 Endocrinology

R306

NIPD for Apert syndrome – mutation testing NIPD

R250

NIPD for congenital adrenal hyperplasia – CYP21A2 haplotype testing NIPD

R307

NIPD for Crouzon syndrome with acanthosis nigricans – mutation testing NIPD

Go to Service Turnaround Times