Genetic carrier screening

Background: The human body consists of many things among them cells. The cells are a bit like pieces of lego that are used to build the body. Each cell has a nucleus, a core. In the nucleus, we can find the DNA organised in chromosomes. DNA decides and influences a lot of things. A gene is a piece of the DNA that codes for a function in the body, for example eye colour.
The following example is a bit simplified to clearly explain important terminology in the field.
To get blue eyes you need to get one gene from both your biological parents that codes for blue eyes. When you need two genes for something it is called a recessive gene.
To get brown eyes you need one gene for brown eyes from one biological parent. In comparison to the gene for blue eyes, this means that the brown eye gene is dominant.

The analysis tries to find genes that could cause the any of the following diseases:

  • Cystic fibrosis
  • Spinal muscular atrophy (SMA)
  • Fragile X syndrome
  • Galactosemia
  • HbB-related hemoglobinopathy e.g. Beta thalassemia and Sickel cell disease
  • Phenylketonuria
  • MCAD deficiency
  • Glycogen storage disease, type 2 also known as Pompe disease
  • Fabry disease
  • PMM2-CDG, Congenital disorders of glycosylation, type 1A
  • Diastrophic dysplasia also known as Achondrogenesis, type 1B
  • Biotinidase deficiency
  • Primary Hyperolxauria, type 1
  • Smith-Lemli-Optiz syndrome
  • LCHAD deficiency
  • Methylmalonic acidemia with homocystinuria, cbIC type
  • Emery-Dreifuss muscular dystrophy, type 1, X-linked
  • Homocystinuria due to cystationine beta-synthase
The test: We offer testing for recessive diseases that are interesting specifically for you, for example, if you have relatives with cystic fibrosis or other recessive diseases.
How is the test performed: Saliva test
Price: 5 450 SEK
Booking: contact us here or at
Genetic carrier screening