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.

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This 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