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TEST:
AmplideX® Nanopore Carrier Plus Kit

Company:
Bio-Techne
Type:
Laboratory Developed Test
Related tests:

Details

Evidence
The AmplideX® Nanopore Carrier Plus Kit has one workflow for nine high-prevalence carrier screening conditions across 11 genes providing additional insights through long-read sequencing. Most of the conditions are hard-to-decipher by short-read sequencing.
Gene:
CFTR (CF Transmembrane Conductance Regulator), CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2), F8 (Coagulation Factor VIII), FMR1 (Fragile X Messenger Ribonucleoprotein 1), GBA1 (Glucosylceramidase Beta 1), HBA1 (Hemoglobin Subunit Alpha 1)
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Method:
Long-Range PCR and Long-Read Sequencing