• Test code: 01736
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit

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)
  • DIS3L2-related conditions
  • Perlman syndrome

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 and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below. In addition, the analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

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