SOFIVA Baby Scan v2.0/v3.0

Classic Galactosemia

2024-08-14 2024-08-14 / 外語專區 / GAL, Galactosemia, GALT, newborn screening, Rare Diseases Genetic Testing, SOFIVA Baby Scan v2.0/v3.0, SOFIVA Carrier Scan v2.0/v3.0

Classic galactosemia is a rare autosomal recessive disorders that causes an inability to digest galactose, which is a breakdown product of lactose. Lactose is found mainly in milk and dairy products.

Glucose-6-phosphate dehydrogenase deficiency, G6PD deficiency

2024-08-14 2024-08-26 / 外語專區 / Rare Diseases Genetic Testing, SOFIVA Baby Scan v2.0/v3.0, SOFIVA Carrier Scan v2.0/v3.0

Glucose-6-phosphate dehydrogenase (G6PD) is a vital enzyme in all types of cells for the normal processing of carbohydrates turn into energy. It especially plays a critical role in red blood cells.

Abnormally high Thyroid-Stimulating Hormone (TSH) levels

2024-08-09 2024-08-09 / 外語專區 / Congenital hypothyroidism, Rare Diseases Genetic Testing, SOFIVA Baby Scan v2.0/v3.0, SOFIVA Carrier Scan v2.0/v3.0

Thyroid stimulating hormone (TSH) is the hormone produced by the brain which is a messenger to tell the thyroid gland to make more thyroid hormone.