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 (Testing is performed via MLPA)

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

How to order

LATEST ARTICLES

Duchenne muscular dystrophy, a rare inherited muscle disorder characterized by progressive muscle weakness and degeneration that leads to difficultie...

Read more

May 12 is International Nurses Day. It is celebrated on Florence Nightingale’s birthday. She pioneered the field of modern nursing through her dedi...

Read more

Hair loss is a common problem that affects millions of men and women around the world. While genetics is believed to be the most significant factor c...

Read more

Depression is a serious mental health issue affecting over 280 million people worldwide. Recent research has revealed a potential link between gut he...

Read more

If you are unlucky enough to suffer from migraines, you will know that a migraine is not just a bad headache. The headache and accompanying symptoms ...

Read more

Autism spectrum disorder (ASD) is a neurological developmental disorder that affects brain development and function. This affects how people learn, b...

Read more

Researchers have developed a method called "Mendelian Phenotype Search Engine" (MPSE) to identify which sick infants in the neonatal intensive care u...

Read more

Did you know that wisdom teeth are actually an evolutionary leftover from our ancient ancestors that no longer serve their original purpose? These mo...

Read more

Azoospermia is a medical condition characterized by the absence of sperm in the ejaculate and is a major cause of male infertility. It affects 1 in 1...

Read more

Science has traditionally been a male dominated subject; however, women have also been hard at work in this field for decades. We put together this i...

Read more