Disorders

PNPLA1-Related Autosomal Recessive Congenital Ichthyosis

Gene	Locus	Protein
PNPLA1	6p21.31	Patatin-like phospholipase domain-containing protein 1

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany

^* 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.