Medulloblastoma Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
13023 APC 81479,81479 Order Options
BRCA2 81216,81167
ELP1 81479,81479
GPR161 81479,81479
PALB2 81307,81479
PTCH1 81479,81479
PTCH2 81479,81479
SUFU 81479,81479
TP53 81405,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
13023 Genes x (9) 81479 81167, 81216, 81307, 81405, 81479 $890 Order Options

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 PGxome Custom Panel tool.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

For Reflex to PGxome pricing click here.

Targeted Testing

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

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Medulloblastoma is a primary central nervous system (CNS) malignant tumor that is more commonly observed in the pediatric population, as it affects approximately 9.6 children and 0.54 adults per million individuals (Smoll and Drummond. 2012. PubMed ID: 22981874). It is also more commonly reported in males than females (Khanna et al. 2017. PubMed ID: 28828582). The tumor starts in the brain at the base of the skull in the posterior fossa, and tends to spread to other areas of the brain and spinal cord. Individuals with medulloblastoma may experience issues with walking, balance, fine motor skills, headaches, nausea, seizures and other features. Treatment usually consists of surgery to remove as much tumor as possible and subsequent treatment by radiation and/or chemotherapy leading to improved prognosis and increased surveillance (Kameda-Smith. 2020. PubMed ID: 32095940).

Genetics

Most cases of medulloblastoma are thought to be sporadic and have been stratified into molecular subgroups depending on the underlying biology and patient clinical characteristics (Juraschka and Taylor. 2019. PubMed ID: 31574483). These subgroups include wingless [WNT], sonic hedgehog [SHH], group 3, and group 4. However, there are also reports on the association of medulloblastoma in germline genetic disorders such as Gorlin syndrome, Li-Fraumeni syndrome, Fanconi anemia, familial adenomatous polyposis (FAP), and others. Genes associated with these disorders are tumor suppressors, and mutations in these genes are often loss of function sequence variants (e.g. premature protein termination); although missense and copy number variants have also been reported. Variants in these disorders can be inherited, but can also occur as de novo mutations. Pathogenic variants have also been observed in other germline genes that increase medulloblastoma risk. For instance, pathogenic variants in GPR161 have been reported to predispose individuals to pediatric medulloblastoma (Begemann et al. 2020. PubMed ID: 31609649). Germline loss of function variants in ELP1 have also been identified in individuals with medulloblastoma, especially pediatric patients in the SHH subgroup (Waszak et al. 2020. PubMed ID: 32296180).

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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in genes in this panel have been estimated to be responsible for approximately 5% of medulloblastoma diagnoses (Waszak et al. 2018. PubMed ID: 29753700).

Indications for Test

Individuals with a personal or family history of medulloblastoma are candidates. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.

Genes

Official Gene Symbol OMIM ID
APC 611731
BRCA2 600185
ELP1 603722
GPR161 612250
PALB2 610355
PTCH1 601309
PTCH2 603673
SUFU 607035
TP53 191170
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Begemann et al. 2020. PubMed ID: 31609649
  • Juraschka and Taylor. 2019. PubMed ID: 31574483
  • Kameda-Smith. 2020. PubMed ID: 32095940
  • Khanna et al. 2017. PubMed ID: 28828582
  • Smoll and Drummond. 2012. PubMed ID: 22981874
  • Waszak et al. 2018. PubMed ID: 29753700
  • Waszak et al. 2020. PubMed ID: 32296180

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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

Total Price: $
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