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Condition
Test Name
Carrier screening - Platinum [~2000 recessive genes & MLPA (SMA, CYP21A2) ][Expedited TAT]
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 2 recessive genes, with a mean on-target read depth of 8-1x.
Specimen Type
Peripheral blood/purified genomic DNA
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