Medulloblastoma Panel
Summary and Pricing 
Test Method
Exome Sequencing with CNV DetectionTest 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
- Genetic Counselor Team - support@preventiongenetics.com
Geneticist
- Jerry Machado, PhD, DABMG, FCCMG - jerry.machado@preventiongenetics.com
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.
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 |
Diseases
Related Test
Name |
---|
PGxome® |
Citations 
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

ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
STAT and Prenatal Test Options are not available with Patient Plus.