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PTEN Gene Sequencing and Del/Dup

FORMS AND DOCUMENTS

• Test Requisition
• Informed Consent
• Test Info Sheet

TEST DETAILS

Genes:

PTEN

Disorders:

• Autism Spectrum Disorders
• Bannayan-Riley-Ruvalcaba Syndrome
• Cowden Syndrome
• PTEN associated Macrocephaly/Autism Syndrome
• PTEN-Related Disorders/PTEN Hamartoma Tumor Syndrome
• Proteus Syndrome/Proteus-like Syndrome

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

List Price:

$2,000.00

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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