Adventia Carrier Screening Core Panel tests for 22 genes associated with genetic diseases of high incidence and severity.
All disorders tested in the Adventia Focus panels are included in the Adventia Core panel.
What diseases are associated with the genes tested in this panel?
Unless otherwise stated, testing for the disorders below is performed via Target Capture Enrichment Technology utilizing Next Generation Sequencing.
Alpha Thalassemia (Testing is performed via MLPA)
Dystrophinopathies [Duchenne Muscular Dystrophy (X-linked) & Becker Muscular Dystrophy (X-linked)]
Fanconi Anemia, Type C
Fragile X Syndrome; (X-linked) (Testing is performed via Fragment analysis)
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Mucolipidosis Type IV
Niemann-Pick Disease, Types A/B
Non-Syndromic Hearing Loss GJB2-Related and GJB6-Related
Phenylalaline Hydroxylase Deficiency (Phenylketonurea)
Spinal Muscular Atrophy (Testing is performed via MLPA)
More information on the detection rates for the disorders tested above can be found on the Adventia Carrier Screening page.