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Specimen Collection Manual and Test Catalog

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PTEN GENE SEQUENCING AND DEL/DUP, GENEDX

Geisinger Epic Procedure Code:  LAB2949    Geisinger Epic ID:  47634

SPECIMEN COLLECTION
Specimen type: 

EDTA whole blood (preferred) OR 2 buccal swabs


Preferred collection container: 
Alternate collection container: 
3 mL lavender-top (K2 EDTA) tube
Specimen required: 

2-5 mL EDTA whole blood OR 2 buccal swabs



SPECIMEN PROCESSING
Transport temperature: 

Refrigerated.


Specimen stability: 

Refrigerated: 7 days.



TEST DETAILS
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
Synonyms: 

GeneDx code 195, PTEN


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


Review Date:  12/12/2024

Performing Locations