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Medulloblastoma and Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome via the SUFU Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
SUFU 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8303SUFU81479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

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

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

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.


Genetic Counselors


  • Yuan Xue, PhD

Clinical Features and Genetics

Clinical Features

Medulloblastoma is the most common malignant childhood brain tumor accounting for approximately 20% of pediatric brain cancers (Pfister et al. 2009). Five different histologic categories exist for this tumor of the cerebellum, including: classic, anaplastic, large cell, desmoplastic/nodular, and medulloblastoma with extensive nodularity (MBEN) (Brugieres et al. 2012). Most cases of medulloblastoma are sporadic, however rare familial medulloblastoma cases have been described (Brugieres et al. 2009). In addition, medulloblastoma is a presenting feature of Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome in a small subset of patients.

Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome is characterized by adolescent and early adult multiple jaw keratocysts and/or basal cell carcinomas (BCCs). Other features include macrocephaly, frontal bossing, coarse facial features, palmar/plantar pits, cardiac and ovarian fibromas, skeletal abnormalities (e.g. bifid ribs, wedge-shaped vertebrae) and facial milia. Infrequently, children will develop medulloblastoma (primitive) around 2 years of age (Evans and Farndon 2002). It has a birth incidence of ~1:19,000 (Evans et al. 2010).


Familial medulloblastoma demonstrates an autosomal dominant pattern of inheritance with variable penetrance (Brugieres et al. 2009). Germline and somatic mutations of the tumor suppressor SUFU have been observed in sporadic and familial medulloblastoma (Taylor et al. 2002; Brugieres et al. 2012). Specifically, SUFU mutations are found in individuals with desmoplastic tumors, which make up 20-30% of medulloblastomas. This is especially true in pediatric patients SUFU mutation with desmoplastic medulloblastomas (Brugieres et al. 2012). SUFU pathogenic variants have also been associated with Nevoid Basal Cell Carcinoma Syndrome/Gorlin Syndrome with or without medulloblastoma (Pastorino et al. 2009), and have also been associated with meningioma (Kijima et al. 2012; Aavikko et al. 2012).

The SUFU gene encodes a protein that is a negative regulator of the hedgehog signaling pathway, which is important in pattern formation and cellular proliferation during development (Taylor et al. 2002).

Clinical Sensitivity - Sequencing with CNV PG-Select

SUFU pathogenic variants may be responsible for approximately 2-3% of sporadic medulloblastomas and >10% of desmoplastic medulloblastomas (Slade et al. 2010).

Testing Strategy

This test provides full coverage of all coding exons of the SUFU gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Individuals with a clinical presentation or a family history of medulloblastoma, sporadic desmoplastic medulloblastoma/ MBEN or Nevoid Basal Cell Carcinoma syndrome/Gorlin syndrome with a negative PTCH1 mutation test. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.


Official Gene Symbol OMIM ID
SUFU 607035
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Medulloblastoma AD 155255
Meningioma, Familial AD 607174


  • Aavikko M, Li S-P, Saarinen S, Alhopuro P, Kaasinen E, Morgunova E, Li Y, Vesanen K, Smith MJ, Evans DGR, Pöyhönen M, Kiuru A, et al. 2012. Loss of SUFU Function in Familial Multiple Meningioma. The American Journal of Human Genetics 91: 520–526. PubMed ID: 22958902
  • Brugieres L, Pierron G, Chompret A, Paillerets BB -d., Rocco F Di, Varlet P, Pierre-Kahn A, Caron O, Grill J, Delattre O. 2009. Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations. Journal of Medical Genetics 47: 142–144. PubMed ID: 19833601
  • Brugieres L, Remenieras A, Pierron G, Varlet P, Forget S, Byrde V, Bombled J, Puget S, Caron O, Dufour C, Delattre O, Bressac-de Paillerets B, et al. 2012. High Frequency of Germline SUFU Mutations in Children With Desmoplastic/Nodular Medulloblastoma Younger Than 3 Years of Age. Journal of Clinical Oncology 30: 2087–2093. PubMed ID: 22508808
  • Evans DG, Farndon PA. 2002. Nevoid Basal Cell Carcinoma Syndrome. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, and Stephens K, editors. GeneReviews™, Seattle (WA): University of Washington, Seattle. PubMed ID: 20301330
  • Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F. 2010. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am. J. Med. Genet. A 152A: 327–332. PubMed ID: 20082463
  • Kijima C, Miyashita T, Suzuki M, Oka H, Fujii K. 2012. Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation. Familial Cancer 11: 565–570. PubMed ID: 22829011
  • Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè ML, Clementi M, Scarrà GB. 2009. Identification of a SUFU germline mutation in a family with Gorlin syndrome. American Journal of Medical Genetics Part A 149A: 1539–1543. PubMed ID: 19533801
  • Pfister S, Hartmann C, Korshunov A. 2009. Histology and Molecular Pathology of Pediatric Brain Tumors. Journal of Child Neurology 24: 1375–1386. PubMed ID: 19841426
  • Slade I, Murray A, Hanks S, Kumar A, Walker L, Hargrave D, Douglas J, Stiller C, Izatt L, Rahman N. 2010. Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. Familial Cancer 10: 337–342. PubMed ID: 21188540
  • Taylor MD, Liu L, Raffel C, Hui C, Mainprize TG, Zhang X, Agatep R, Chiappa S, Gao L, Lowrance A, Hao A, Goldstein AM, et al. 2002. Mutations in SUFU predispose to medulloblastoma. Nature Genetics 31: 306–310. PubMed ID: 12068298


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

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