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Infantile Myofibromatosis Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
NOTCH3 81406,81479
PDGFRB 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10091Genes x (2)81479 81406(x1), 81479(x3) $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.


Genetic Counselors


  • Jamie Fox, PhD

Clinical Features and Genetics

Clinical Features

Infantile myofibromatosis (IM), previously known as congenital generalized fibromatosis, is characterized by the development of tumors in various tissues and organs. IM affects mostly infants and young children. Although tumors are usually detected at birth or during the first two years of life, adult onset has been also reported (Chung and Enzinger 1981).

Two main types of IM, solitary and multicentric, are distinguished. Each type is further divided in two groups based on the presence or absence of visceral involvement (Wiswell et al. 1988).

The solitary type is characterized by the development of a single nodule mainly in the bones, striated muscle, skin, or subcutaneous tissues. In rare cases, solitary tumors have been reported in the viscera.

The multicentric type is characterized by the development of multiple nodules in various organs. Visceral involvement is common in this type. The lungs, heart, gastrointestinal tract, pancreas, liver, and bones are most commonly affected. Involvement of the central nervous system appears to be rare (Wada et al. 1998). IM with visceral involvement has a poor prognosis, although spontaneous regression has been reported in some cases (Teng et al. 1963).

About half the patients with IM have the solitary type and the other half have the multicentric type. The solitary type affects older individuals in about 20% of patients. Both solitary and multicentric IM have a good prognosis in the absence of visceral involvement when the tumors regress spontaneously during the first years of life. However, new tumors may develop later.

IM is clinically heterogeneous. Symptoms are highly variable and depend on the number and location of tumors. The disease may be limited to the skin in some patients, while several visceral organs are involved in other patients. Affected related members may present either with the solitary type with no visceral involvement or the multicentric visceral type (Cheung et al. 2013). The tumors consist of soft tissues abnormalities, and are usually benign. However, complications may occur when the tumors affect the normal function of vital organs such as the brain or viscera.

Although rare, IM has been reported in various ethnic and geographical groups (Cheung et al. 2013).


In most of the IM-affected families reported, the disease is inherited in an autosomal dominant manner. In rare families, a recessive mode of transmission is speculated. It has been argued that family history may be difficult to obtain due to the spontaneous regression of tumors (Narchi 2001).

Autosomal Dominant IM is genetically heterogeneous. Two genes, PDGFRB and NOTCH3, have been implicated in the disease.

Two germline pathogenic missense variants in the PDGFRB gene, c.1681C>T (p.Arg561Cys) and c.1978C>A (p.Pro660Thr) have been reported. The c.1681C>T variant was reported in families from different ethnic and geographical populations (Cheng et al. 2013; Martignetti et al. 2013; Arts et al. 2016).

To date, only one heterozygous germline missense variant in NOTCH3, 4556T>C (p.Leu1519Pro), has been implicated in IM. This variant was identified via whole exome sequencing. Evidence for pathogenicity include co-segregation of the variant in a large family with a history of IM and no pathogenic variants in PDGFRB; absence from large population databases of genetic variations; and localization in the hetero-dimerization domain of the protein (Martignetti et al. 2013; Arts et al. 2016).

PDGFRB encodes the platelet-derived growth factor receptor beta, a tyrosine kinase receptor that is involved in several cellular processes including proliferation, differentiation, survival, and migration. It has also been suggested that the PDGFRB/ PDGFB pathway is involved in the calcification of vascular smooth muscle cells (Diliberto et al. 1991).

NOTCH3 encodes a transmembrane protein that is a member of the NOTCH receptor family. NOTCH signaling is involved in the regulation of various processes in both the embryo and the adult (Joutel 2000).

In vitro studies have previously revealed interactions between the Notch and PDGF signaling pathways (Jin et al. 2008).

Clinical Sensitivity - Sequencing with CNV PGxome

Pathogenic variants in the PDGFRB gene are the major cause of familial IM; they were found in about 90% of IM-affected families (Cheng et al. 2013; Martignetti et al. 2013). Pathogenic variants in the NOTCH3 gene appear to be a rare cause of IM. Such a variant was identified in one out of 9 IM-affected families (Martignetti et al. 2013).

Testing Strategy

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

This panel provides 100% 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

Patients with clinical and radiological findings suggestive of infantile myofibromatosis are candidates.


Official Gene Symbol OMIM ID
NOTCH3 600276
PDGFRB 173410
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test



  • Arts F.A. et al. 2016. Oncogene. 35: 3239-48. PubMed ID: 26455322
  • Cheung Y.H. et al. 2013. American Journal of Human Genetics. 92: 996-1000. PubMed ID: 23731537
  • Chung E.B., Enzinger F.M. 1981. Cancer. 48: 1807-18. PubMed ID: 7284977
  • Diliberto P.A. et al. 1991. The Journal of Biological Chemistry. 266: 12612-7. PubMed ID: 1905727
  • Jin S. et al. 2008. Circulation Research. 102: 1483-91. PubMed ID: 18483410
  • Joutel A. et al. 2000. Annals of Neurology. 47: 388-91. PubMed ID: 10716263
  • Martignetti J.A. et al. 2013. American Journal of Human Genetics. 92: 1001-7. PubMed ID: 23731542
  • Narchi H. 2001. Clinical Genetics. 59: 134-5. PubMed ID: 11260217
  • Teng P. et al. 1963. . The Journal of Pediatrics. 62: 748-53. PubMed ID: 13980570
  • Wada H. et al. 1998. Journal of Pediatric Hematology/oncology. 20: 353-6. PubMed ID: 9703012
  • Wiswell T.E. et al. 1988. Journal of Pediatric Surgery. 23: 315-8. PubMed ID: 3385581


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