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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.

R143

Neonatal diabetes Endocrinology

R184

Cystic fibrosis diagnostic test Core

R263

Confirmation of uniparental disomy Core/Specialised

R264

Identity testing Core

R265

Chromosomal mosaicism – karyotype Core

R296

RNA analysis of variants Core/Specialised

R297

Possible structural chromosomal rearrangement – karyotype Core

R297

Possible structural chromosomal rearrangement – karyotype/Targeted Chromosome Analysis Core

R298

Possible structural or mosaic chromosomal abnormality – FISH Core

R320

Invasive prenatal diagnosis requiring fetal sexing Core

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