Mucopolysaccharidosis I (MPS I)/ HURLER Syndrome
Mucopolysaccharidoses, a group of lysosomal storage diseases, are classified into 11 types according to the genes involved. Type I is the most severe one.
SOFIVA Carrier Scan v2.0/v3.0
Fabry disease
This interpretation of results indicating that the patient may have an inherited metabolic disease can be used as additional information when you have consultations with doctors. Please read the following information carefully.
Classic Galactosemia
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
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
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.