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Condition
Test Name
Carrier screening - Platinum[~2000 recessive genes & MLPA (SMA, CYP21A2)]
Inclusive Genes
Carrier test Platinum involves next generation sequencing of clinically relevant genes, reported in either OMIM or HGMD to be associated with a Mendelian disorder. The custom design provides =98% coverage of around 2000 recessive genes, with a mean on-target read depth of 80-100x.
Specimen Type
Peripheral blood/purified genomic DNA
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