Disorders


 

Perlman Syndrome


Synonym(s): Nephroblastomatosis, Fetal Ascites, Macrosomia, and Wilms Tumor, PRLMNS, Renal Hamartomas, Nephroblastomatosis, and Fetal Gigantism

 

OMIM

GeneLocusProtein
DIS3L22q37.1DIS3-like exonuclease 2

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• 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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