MDR1 gene variant

General description

In MDR1 gene defect, hypersensitivity to various drugs such as antiparasitics occurs, and their administration may cause serious symptoms such as respiratory difficulties, movement disorders, lethargy, as well as life-threatening convulsions, so alternative drugs should be chosen.

Order details
Test number8776
AbbreviationMDR1
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexmetabolic
Inheritanceautosomal recessive
Causalitycausally
GeneABCB1
MutationDEL
LiteratureOMIA:001402-9685
Detailed description

The MDR1 gene defect correlates with a disorder in drug metabolism and thus hypersensitivity to various pharmaceuticals such as antiparasitics (e.g., ivermectin), antibiotics, cytostatics, or analgetics and anesthetics. Symptoms following administration of these drugs are diverse and include breathing difficulties, movement disorders, lethargy and dilated pupils, and even life-threatening convulsions. In the case of chemotherapeutic agents, altered metabolism can lead to gastrointestinal intoxications and also bone marrow depression. The inheritance is autosomal recessive, but also in heterozygous animals a restricted metabolism of the active substances or a lower tolerance must be assumed.


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