Laboratory	Test Method	Prenatal	Carrier *
CGC Genetics - Porto, Portugal	• Sequence analysis of the entire coding region
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA	• Sequence analysis of the entire coding region • Sequence analysis of select exons • Targeted mutation analysis

^* 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.