Disorders


 

Mucolipidosis III Gamma


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

 

GeneReviewOMIM

GeneLocusProtein
GNPTG16p13.3N-acetylglucosamine-1-phosphotransferase subunit gamma

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Uniparental disomy study (UPD)
• Deletion/duplication analysis

* 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.

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