Hereditary Multiple Exostoses (HME)

Individuals with hereditary multiple exostoses (HME) often develop benign cartilage-capped tumors (exostoses) at the ends of the long bones or the surface of flat bones. Exostoses develop prior to skeletal maturity only. Bony deformity, bowing of the long bones, limited range of motion, and premature osteoarthrosis may be associated with HME. Exostoses also may cause complications by putting pressure on nearby issues, nerves or blood vessels. A rare but severe risk in patients with multiple exostoses is the development of malignant chondrosarcoma, which occurs in 1-5% of patients. Mutations in the EXT1 gene seem to be associated with a more severe disease and higher risk of developing chondrosarcoma than EXT2 gene mutation.

Tests Available

Forms and Documents

Test Details

EXT1, EXT2
  • Confirmation of the clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

1813
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x4
Yes
Yes
  • 726.91 Exostosis of unspecified site, Bone spur NOS
* For price inquiries please email zebras@genedx.com

References

  1. Vink JR et al., (2005) Eur J Hum Genet 13:470-474
  2. Wuyts et al. Ned Tijdschr Geneeskd 2002, 146:162-164
  3. Porter et al., (2004) J Bone Joint Surg Br 86:1041-6
  4. Pedrini et al., (2005) Hum Mut; Mut in Brief #830
  5. Wuyts et al., (2005) Clin Genet 68:542-547
  6. Jennes et al., (2008) J Mol Diagn, 10(1):85-92
  7. Heinritz et al., (2009) Ann Hum Genet 73:283-291

Forms and Documents

Test Details

EXT1, EXT2
  • Confirmation of the clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing
  • Exon Array CGH

Ordering

1811
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x3
Yes
Yes
  • 726.91 Exostosis of unspecified site, Bone spur NOS
* For price inquiries please email zebras@genedx.com

References

  1. Wuyts et al. Ned Tijdschr Geneeskd 2002, 146:162-164
  2. Vink JR et al., (2005) Eur J Hum Genet 13:470-474
  3. Porter et al., (2004) J Bone Joint Surg Br 86:1041-6
  4. Pedrini et al., (2005) Hum Mut; Mut in Brief #830
  5. Wuyts et al., (2005) Clin Genet 68:542-547
  6. Jennes et al., (2008) J Mol Diagn, 10(1):85-92
  7. Heinritz et al., (2009) Ann Hum Genet 73:283-291

Forms and Documents

Test Details

EXT2
  • Confirmation of the clinical diagnosis
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

1812
4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 726.91 Exostosis of unspecified site, Bone spur NOS
* For price inquiries please email zebras@genedx.com

References

  1. Heinritz et al., (2009) Ann Hum Genet 73:283-291.
  2. Wuyts et al., (2005) Clin Genet 68:542-547.
  3. Jennes et al., (2008) J Mol Diagn, 10(1):85-92.
  4. Pedrini et al., (2005) Hum Mut; Mut in Brief #830.
  5. Porter et al., (2004) J Bone Joint Surg Br 86:1041-6.
  6. Wuyts et al. Ned Tijdschr Geneeskd 2002, 146:162-164.
  7. Vink JR et al., (2005) Eur J Hum Genet 13:470-474.