Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Enzyme assay
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA	• Enzyme assay
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Mayo Clinic, Metabolic Hematology Laboratory - Rochester, MN, USA	• Enzyme assay

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.