Disorders

Acute Hepatic Porphyria

Synonym(s): Delta-Aminolevulinate Dehydratase Deficiency, Porphobilinogen Synthase Deficiency

Gene	Locus	Protein
ALAD	9q32	Delta-aminolevulinic acid dehydratase

Laboratory	Test Method	Prenatal	Carrier *
Cologne University, Institute of Human Genetics - Cologne, Germany
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte • Enzyme assay
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Porphyria DNA Testing - New York, NY, USA	• Analyte
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA	• Analyte
University of Texas Medical Branch, Porphyria Laboratory - Galveston, TX, USA	• Analyte

^* 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.