Disorders

Mucolipidosis III Gamma

Synonym(s): Mucolipidosis III C, Variant Pseudo Hurler Polydystrophy

Gene	Locus	Protein
GNPTG	16p13.3	N-acetylglucosamine-1-phosphotransferase subunit gamma

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Uniparental disomy study (UPD)

^* 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.