Hereditary Fructose Intolerance
Test covered by the reimbursement:
YES
Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood, Isolated DNA from blood
…
Turnover time:
4 weeks
Material:
Peripheral blood
| 1x 3 ml of whole blood in K3 EDTA tube
Storage before examination: 5 days 2 – 8°C
Isolated DNA from blood
| 10–100 ng/μL of isolated DNA from blood in a PCR tube of at least 15 μL.
Storage before examination: 5 days 15 – 25°C
Buccal swab
| 2x swab stick for buccal swab collection
Storage before examination: 5 days 15 – 25°C
Quick test description:
The test uses a certified (CE-IVD) reverse hybridization strip method to examine the most common mutations—A149P, A174D, N334K, and the del4E4 deletion—in the ALDOB gene, which are responsible for fructose intolerance.
Test details:
The Hereditary Fructose Intolerance test focuses on investigating the most common genetic causes of fructose intolerance. This type of food intolerance is an autosomal recessive disorder characterized by an inability to metabolize fructose. This leads to the accumulation of a fructose-processing metabolite in the liver and can cause damage to the liver, kidneys, and lead to other complications. With an incidence of 1:20,000 in the Czech Republic, it is one of the most common hereditary carbohydrate metabolism disorders.
The test detects the A149P, A174D, N334K mutations and the del4E4 deletion in the ALDOB gene.