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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.

R293

Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis Endocrinology

R106

Alstrom syndrome Endocrinology

R314

Ambiguous genitalia presenting neonatally Core

R155

Autoimmune Polyendocrine Syndrome Immunology

R49

Beckwith-Wiedemann syndrome Endocrinology

R319

Calcium-sensing receptor phenotypes Endocrinology

R156

Carney complex Endocrinology

R415

Cleidocranial Dysplasia Musculoskeletal

R180

Congenital adrenal hyperplasia diagnostic test Endocrinology

R150

Congenital adrenal hypoplasia Endocrinology

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