Disorders

Perrault Syndrome

Synonym(s): Gonadal Dysgenesis, XX Type, with Deafness, Ovarian Dysgenesis with Sensorineural Deafness, PRLTS

Gene	Locus	Protein
HSD17B4	5q2	Peroxisomal multifunctional enzyme type 2

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA

^* 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.