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Proteus Syndrome/Proteus-like Syndrome

PS/PS-like (PSL) is an extremely rare congenital disorder with generalized, unilateral, or localized hamartomatous overgrowth of any tissue. Unusual malignancies have been observed, such as cystadenoma of the ovary, testicular tumors, central nervous system tumors, and parotid monomorphic adenomas.

+ Mutation-specific testing   + Prenatal testing

PS/PS-like (PSL) is an extremely rare congenital disorder with generalized, unilateral, or localized hamartomatous overgrowth of any tissue. Unusual malignancies have been observed, such as cystadenoma of the ovary, testicular tumors, central nervous system tumors, and parotid monomorphic adenomas.

+ Mutation-specific testing   + Prenatal testing

Tests Available

PTEN Gene Sequencing and Del/Dup

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
PTEN
Clinical Utility:
  • Confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Determination of appropriate screening and treatment
  • Prenatal diagnosis in at-risk pregnancies
Lab Method:
Capillary Sequencing, Exon Array CGH

ORDERING

Test Code:
195
Turnaround Time:
6-8 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81321x1, 81323x1
Billing Information:
View Neurology Billing Policy
ICD Codes:
  • 315.9: Unspecified delay in development, Developmental disorder NOS, Learning disorder NOS
  • 214: Skin and subcutaneous tissue of face
  • 742.4: Other specified anomalies of brain, Congenital cerebral cyst, Macroencephaly, Macrogyria, Megalencephaly, Multiple anomalies of brain NOS, Porencephaly Ulegyria
  • 174: Malignant neoplasm of female breast Includes: breast (female) connective tissue soft parts
  • V12.72: Colonic polyps

REFERENCES

  1. Eng, C. Hum Mutat. 22: 183-98, 2003
  2. Marsh, D.J. et al. Hum Mol Genet. 7: 507-15, 1998
  3. Zhou, X.P. et al. Am J Hum Genet. 73: 404-11, 2003
  4. Pezzolesi, M. et al. Hum Mol Genet. 16: 1058-71, 2007
  5. Zhou, X.P. et al. Hum Mol Genet. 9: 765-8, 2000
  6. Zhou, X.P. et al. Lancet. 358: 210-1, 2001
  7. Barker, K. et al. J Med Genet. 38: 480-1, 2001
  8. Smith, J.M. et al., J Med Genet. 39: 937-40, 2002

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