Hereditary Multiple Osteochondromas (HMO) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
10085 EXT1 81479,81479 Order Options and Pricing
EXT2 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
10085Genes x (2)81479 81479 $890 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 PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Clinical Features and Genetics

Clinical Features

Hereditary multiple osteochondromas, also known as hereditary multiple exostoses (OMIM#133700 for type I and #133701 for type II), are benign cartilage-capped bone tumors (exostoses) that grow outward from the metaphyses of long bones. Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves (Schmale et al. GeneReviews. 2008). The lifetime risk for malignant osteochondrosarcoma is low (1-5%), but the risk increases with age (Vink et al. Eur J Hum Genet 13:470-474, 2005).

Genetics

HMO is inherited as an autosomal dominant trait with high penetrance (~95%). About 10% of affected individuals have HMO as the result of a de novo variant. Two genes (EXT1 and EXT2) are known to be associated with HMO. A possible third locus is thought to account for a small number of cases, but the gene has not yet been identified. Both EXT gene products (exostosin-1, exostosin-2) are involved in the biosynthesis of heparan sulfate. EXT1 and EXT2 encode glycosyltransferases that interact as heterooligomeric complexes and participates in cell signaling and chondrocyte proliferation and differentiation (McCormick et al. Proc Natl Acad Sci 97:668–673, 2000). EXT1 variants account for 56-78% of HMO cases, and EXT2 variants account for 21-44% of HMO cases (Schmale et al. GeneReviews 2008). In both genes, most of reported variants are nonsense, frameshift, and splice site variants. Individuals with EXT1 variants were found to have a greater number of exostoses, a greater incidence of limb malalignment with shorter limb segments and height, and more frequent pelvic and flat bone involvement than those with EXT2 variants (Alvarez et al. Clin Genet 70:122–130, 2006). The risk of chondrosarcoma may also be higher in individuals with an EXT1 variant (Porter et al. J Bone Joint Surg Br 86:1041–1046, 2004).

Clinical Sensitivity - Sequencing with CNV PGxome

Combining EXT1 and EXT2, this test is predicted to detect disease variants in 70-85% of affected individuals with HMO (Schmale et al. GeneReviews 2008). Large deletions that are not detectable by sequencing may be found in up to 10% of patients with HMO (Vink et al. Eur J Hum Genet 13:470-474, 2005).

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.

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

Indications for Test

Candidates for this test are patients with clinical and radiographic features consistent with HMO and family members of patients who have known EXT1 or EXT2 variants.

Genes

Official Gene Symbol OMIM ID
EXT1 608177
EXT2 608210
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Diseases

Name Inheritance OMIM ID
Exostoses, Multiple, Type I AD 133700
Exostoses, Multiple, Type II AD 133701

Related Test

Name
PGxome®

Citations

  • Alvarez, C., et.al. (2006). PubMed ID: 16879194
  • Porter, D. E., et.al. (2004). PubMed ID: 10639137
  • Schmale, Gregory A (2008). PubMed ID: 15446535
  • Vink, G. R., et.al. (2005).

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.

No Additional Test Options are available for this test.

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