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Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog
PTEN GENE SEQUENCING AND DEL/DUP, GENEDX |
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ORDERING INFORMATION: |
Geisinger Epic Procedure Code: LAB2949 Geisinger Epic ID: 47634 | |
SPECIMEN COLLECTION |
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Specimen type: |
EDTA whole blood (preferred) OR 2 buccal swabs | |
Preferred collection container: |
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Alternate Collection Container: |
3 mL lavender-top (K2 EDTA) tube
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Specimen required: |
2-5 mL EDTA whole blood OR 2 buccal swabs | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Refrigerated. | |
Specimen stability: |
Refrigerated: 7 days. | |
TEST DETAILS |
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CPT code(s): |
81321, 81323 | |
| Note: The billing party has sole responsibility for CPT coding. Any questions regarding coding should be directed to the payer being billed. The CPT codes provided by GML are based on AMA guidelines and are for informational purposes only. | ||
Methodology: |
Capillary Sequencing Deletion/Duplication Analysis |
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Synonyms: |
GeneDx code 195 PTEN
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Clinical significance: |
An adult with features of PTEN hamartoma tumor syndrome (PHTS), such as characteristic skin lesions (trichilemmomas, acral keratoses, papillomas, lipomas, etc.), macrocephaly, gastrointestinal polyps (especially hamartomas or ganglioneuromas), Lhermitte-Duclos disease, or associated cancers (breast, endometrial, non-medullary thyroid, renal, melanoma, colon), among other features •A child with early-onset features of PHTS, such as macrocephaly, autism, developmental delay, lipomas, penile freckling, or vascular anomalies, among other features• An unaffected individual with a family history suggestive of PHTS (see above) when an affected individual is unavailable for his or her own genetic testing | |