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Wilms Tumor Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
AMER1 81479,81479
ASXL1 81175,81479
BLM 81479,81479
BRCA2 81479,81167
BUB1B 81479,81479
CDC73 81479,81479
CDKN1C 81479,81479
CTR9 81479,81479
DGCR8 81479,81479
DICER1 81479,81479
DIS3L2 81479,81479
DROSHA 81479,81479
FBXW7 81479,81479
GPC3 81479,81479
HACE1 81479,81479
IGF2 81479,81479
KDM3B 81479,81479
NYNRIN 81479,81479
PALB2 81307,81479
PIK3CA 81479,81479
POU6F2 81479,81479
REST 81479,81479
TP53 81405,81479
TRIM28 81479,81479
TRIM37 81479,81479
TRIP13 81479,81479
WT1 81405,81479
XPO5 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10447Genes x (28)81479 81167(x1), 81175(x1), 81307(x1), 81405(x2), 81479(x51) $990 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing platform).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing platform).

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Melanie Jones, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Wilms tumor is the most common pediatric kidney cancer. It affects nearly 1 in 10,000 children (Mahamdallie et al. 2019. PubMed ID: 30885698). Clinical features of an affected individual can include an abdominal mass, pain, fever, anemia, hematuria and hypertension. Most individuals present with unilateral kidney tumors. Approximately 5-10% of individuals present with bilateral or multifocal tumors of the kidneys. Wilms tumor usually presents before the age of 5, but it has also been initially observed in older individuals. Although patients may present with isolated Wilms tumor, individuals may present with additional clinical features such as those affected with WAGR syndrome (Wilms tumor, aniridia, genital anomalies, range of developmental delays), Denys-Drash syndrome, Frasier syndrome, and Wilms tumor with genitourinary anomalies without renal failure (Dome et al. 1993. PubMed ID: 20301471). Other disorders that have an increased risk of Wilms tumor include Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Perlman syndrome, and Li-Fraumeni syndrome (Mahamdallie et al. 2019. PubMed ID: 30885698). Identification of a germline predisposition to Wilms tumor is important for treatment (e.g. surgery, chemotherapy, radiation) and screening (e.g. imaging studies) (Dome et al. 1993. PubMed ID: 20301471).

Genetics

Wilms tumor generally occurs sporadically, but approximately 2% of individuals have a family member with the tumor, suggesting a hereditary cause of disease (Scott et al. 2006. PubMed ID: 16690728). For cases that are thought to be due to an underlying genetic cause, testing for pathogenic variants in just the WT1 gene is often performed. However, recent literature suggests that pathogenic variants in a number of genes, including FBXW7, KDM3B, NYNRIN, TRIM28 and others significantly increase an individual’s risk for developing Wilms tumor (Mahamdallie et al. 2019. PubMed ID: 30885698). Most of these pathogenic variants are inherited in an autosomal dominant manner, but there are several autosomal recessive and X-linked disorders that increase the risk of developing Wilms tumor.

Many of these genes in the panel are tumor suppressors, and others are involved in nucleic acid metabolism, chromosome organization, and chromatin or histone modification (Mahamdallie et al. 2019. PubMed ID: 30885698).

See individual gene summaries for information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Most Wilms tumors are sporadic; however, testing for germline pathogenic variants in this panel is thought to account for 10-20% of Wilms tumor cases (Md Zin et al. 2011. PubMed ID: 21516053; Mahamdallie et al. 2019. PubMed ID: 30885698). Most individuals with Denys-Drash syndrome have a germline WT1 missense pathogenic variant in exon 8 or 9 (Martínez et al. 2010. PubMed ID: 20687507). Frasier syndrome is caused by pathogenic variants in the WT1 intron 9 donor splice site (Barbaux et al. 1997. PubMed ID: 9398852). Large deletions are found in WAGR syndrome and infrequently in isolated Wilms tumor (Schumacher et al. 1997. PubMed ID: 9108089).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.1% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are patients with isolated Wilms tumor, Denys-Drash syndrome, Frasier syndrome or Wilms tumor with genitourinary anomalies with/without renal failure. Individuals who have a family history of these clinical presentations are also candidates. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Diseases

Name Inheritance OMIM ID
Adrenocortical Carcinoma, Hereditary AD 202300
Basal cell carcinoma 7 AD 614740
Beckwith-Wiedemann Syndrome AD 130650
Bloom Syndrome AR 210900
Bohring-Opitz Syndrome AD 605039
Bone marrow failure syndrome 5 AD 618165
Breast-Ovarian Cancer, Familial 2 AD 612555
Choroid Plexus Papilloma AD 260500
CLAPO syndrome, somatic AD 613089
CLOVE syndrome, somatic AD 612918
Cowden syndrome 5 AD 615108
Deafness, autosomal dominant 27 AD 612431
Drash Syndrome 194080
Fanconi Anemia, Complementation Group D1 AR 605724
Fanconi Anemia, Complementation Group N 610832
Fibromatosis, gingival, 5 AD 617626
Frasier Syndrome 136680
Glioma Susceptibility 1 137800
GLOW syndrome, somatic mosaic AD 618272
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors AD 138800
Growth restriction, severe, with distinctive facies AD 616489
Hyperparathyroidism 1 AD 145000
Hyperparathyroidism 2 AD 145001
IMAGE Syndrome AD 614732
Li-Fraumeni Syndrome AD 151623
Macrodactyly, somatic AD 155500
Meacham Syndrome 608978
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome, Somatic AD 602501
Mosaic Variegated Aneuploidy Syndrome AR 257300
Mosaic Variegated Aneuploidy Syndrome 3 AR 617598
Mulibrey Nanism Syndrome AR 253250
Nephrotic syndrome, type 4 AD 256370
Osteopathia Striata With Cranial Sclerosis XL 300373
Osteosarcoma 259500
Pancreatic Cancer AD 260350
Pancreatic Cancer 2 613347
Pancreatic Cancer 3 613348
Parathyroid Carcinoma 608266
Perlman Syndrome AR 267000
Pleuropulmonary Blastoma AD 601200
Premature Chromatid Separation Trait AD 176430
Prostate Cancer 176807
Rhabdomyosarcoma, embryonal, 2 180295
Simpson-Golabi-Behmel Syndrome XL 312870
Spastic Paraplegia and Psychomotor Retardation with or without Seizures AR 616756
Wilms Tumor 6, Susceptibility to 616806
Wilms Tumor And Radial Bilateral Aplasia AD 601583
Wilms' Tumor 194070

Related Test

Name
PGxome®

Citations

  • Barbaux et al. 1997. PubMed ID: 9398852
  • Dome et al. 1993. PubMed ID: 20301471
  • Mahamdallie et al. 2019. PubMed ID: 30885698
  • Martinez. et al. 2010. PubMed ID: 20687507
  • Md Zin et al. 2011. PubMed ID: 21516053
  • Schumacher et al. 1997. PubMed ID: 9108089
  • Scott et al. 2006. PubMed ID: 16690728

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

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2) Select Additional Test Options

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Note: acceptable specimen types are whole blood and DNA from whole blood only.
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