Invitae Perlman Syndrome Test


Test description

This test analyzes the gene DIS3L2, which is associated with Perlman syndrome. This condition is a rare, autosomal recessive, congenital overgrowth syndrome that is characterized by polyhydramnios, macrosomia, organomegaly, characteristic facial dysmorphology, neurodevelopmental delay, renal dysplasia and nephroblastomatosis, and multiple congenital anomalies. Affected individuals have a high risk of Wilms tumor in early childhood.

Genetic testing of this DIS3L2 may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant would also guide testing and diagnosis of at-risk relatives. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

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Primary panel (1 gene)


Perlman syndrome, DIS3L2-related conditions

Perlman syndrome is a rare overgrowth syndrome that is characterized by fetal/neonatal macrosomia, polyhydramnios, nephromegaly, distinctive facial appearance, developmental delay, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor (WT). The prognosis of Perlman syndrome is poor, with a high neonatal mortality rate. Among the infants who survive beyond the neonatal period, the risk of developing Wilms tumor is approximately 64%.

Perlman syndrome is associated with a high risk of Wilms tumor (approximately 64%) in the infants who survive beyond the neonatal period. Wilms tumor is typically diagnosed before 2 years of age. There is a high frequency of bilateral tumors.

Perlman syndrome is inherited in an autosomal recessive pattern.

The prevalence of Perlman syndrome is unknown.

Analysis of the DIS3L2 gene may be considered in a personal and/or family history of:

  • macrosomia, with prenatal/neonatal onset
  • polyhydramnios/fetal ascites without hydrops
  • characteristic facial features
  • developmental delay
  • multiple congenital anomalies:
    • cardiac anomalies
    • diaphragmatic hernia
    • bilateral renal hamartomas
    • nephroblastomatosis
    • Wilms tumor
    • cryptorchidism

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
DIS3L2 NM_152383.4