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HME Tier 2

FORMS AND DOCUMENTS

• Test Info Sheet
• Test Requisition
• Informed Consent

TEST DETAILS

Genes:

EXT2

Disorders:

• Hereditary Multiple Exostoses (HME)

Clinical Utility:

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

Lab Method:

Capillary Sequencing

ORDERING

Test Code:

1812

Turnaround Time:

4-6 weeks

Preferred Specimen:

2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:

81479x1

Billing Information:

View Billing Policy

ICD Codes:

• 726.91: Exostosis of unspecified site, Bone spur NOS

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.

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