SCIENTIFIC BACKGROUND

ACADM, ASPA, BLM, CFTR, DHCR7, DMD, ELP1, FANCC, FMR1, GALT, GBA, GJB2, GJB6, HBA1, HBA2, HBB, HEXA, MCOLN1,  PAH,  SMN1, SMN2, SMPD1

Category:

Background

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

Beta Thalassemia

Bloom Syndrome

Canavan Disease

Cystic Fibrosis

Dystrophinopathies [Duchenne Muscular Dystrophy (X-linked) & Becker Muscular Dystrophy (X-linked)]

Familial Dysautonomia

Fanconi Anemia, Type C

Fragile X Syndrome; (X-linked) (Testing is performed via Fragment analysis)

Galactosemia
Gaucher Disease

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)

Sickle-Cell Disease
Spinal Muscular Atrophy (Testing is performed via MLPA)

Smith-Lemli-Opitz syndrome

Tay-Sachs Disease

 

More information on the detection rates for the disorders tested above can be found on the Adventia Carrier Screening page. 

GENES

ACADM, ASPA, BLM, CFTR, DHCR7, DMD, ELP1, FANCC, FMR1, GALT, GBA, GJB2, GJB6, HBA1, HBA2, HBB, HEXA, MCOLN1,  PAH,  SMN1, SMN2, SMPD1

ASSOCIATED TESTS

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