Disorders

X-Linked Protoporphyria

Synonym(s): Erythropoietic Protoporphyria, X-linked, XLDPP, X-Linked Dominant Protoporphyria

Gene	Locus	Protein
ALAS2	Xp11.21	5-aminolevulinate synthase, erythroid-specific

Laboratory	Test Method	Prenatal	Carrier *
GeneDx - Gaithersburg, MD, USA
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Porphyria DNA Testing - New York, NY, USA	• Sequence analysis of select exons

^* 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.