Laboratory	Test Method	Prenatal	Carrier *
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Sequence analysis of the entire coding region • Enzyme assay
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Sequence analysis of the entire coding region

^* 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.