Disorders

Hawkinsinuria

Synonym(s): 4-Hydroxyphenylpyruvate Hydroxylase Deficiency

Gene	Locus	Protein
HPD	12q14-qter	4-hydroxyphenylpyruvate dioxygenase

Laboratory	Test Method	Prenatal	Carrier *
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
GeneDx - Gaithersburg, MD, USA
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, 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.