Genomics Services
     
 
 
Biotinidase Deficiency
Biotinidase deficiency is an inherited disorder in which the body is unable to recycle the vitamin biotin. Its signs and symptoms typically appear within the first few months of life, although it can also become apparent later in childhood. The BTD gene provides instructions for making an enzyme called biotinidase. Mutations in the BTD gene cause biotinidase deficiency, as they reduce or eliminate the activity of biotinidase. Profound biotinidase deficiency results when the activity of biotinidase is reduced to less than 10 percent of normal. Partial biotinidase deficiency occurs when biotinidase activity is reduced to between 10 percent and 30 percent of normal. There are five common mutations that account for approximately 60% of abnormal alleles. Early genetic identification is necessary for initiating treatment.

Sample Type

Blood Sample: 5 ml blood in EDTA Vacutainer at 2-8°C
 
 
 
Beta Thalassemia   |   Sickle Cell Anemia   |   MTHFR (Methylenetetrahydrofolate reductase)
Lactose Intolerance   |   Cystic Fibrosis (CFTR Mutation)
Biotinidase Deficiency   |   Hereditary Hemochromatosis
 
 
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