Biotinidase Deficiency
This test is part of AmbrySCREEN Version2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
PrintThis test is part of AmbrySCREEN Version2™, a targeted mutation panel. Common mutations associated with the following conditions are included on this panel.
Disease Name
Biotinidase Deficiency
Disease Information
Biotinidase Deficiency will often cause seizures, weak muscle tone (hypotonia), breathing problems, and delayed development.
Test Description
Specific mutation analysis of BTD c.98_104del7ins3 (p.C33FfsX36), p.R538C, CBS-p.G307S, CBS-p.I278T
Genes
Techniques