GeneDx expands its metabolic disorders test menu to include full sequence analysis for the following metabolic disorders:

Biotinidase Deficiency (BTD)
Propionic Acidemia (PCCA, PCCB)
3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC1, MCCC2)
Glutaric Aciduria Type I (GA1) (GCDH)
Niemann-Pick Disease, Type A and Type B (SMPD1)
Glycogen Storage Disease II (Pompe Disease) (GAA)

These sequencing tests are useful for confirming a biochemical diagnosis, for carrier testing and for prenatal diagnosis of at-risk pregnancies.