Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Test Name: Sunquest Test Code Epic Procedure Code Or ID CPT Code:  

PTEN GENE SEQUENCING AND DEL/DUP, GENEDX

ORDERING INFORMATION:
Sunquest Test Code:
PTEN      Geisinger Epic Procedure Code: PTEN         Geisinger Epic ID: 47634

SPECIMEN COLLECTION
Specimen type:
EDTA whole blood (preferred) OR 2 buccal swabs OR 30-40 mL oral rinse
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 OR 30-40 mL oral rinse.

SPECIMEN PROCESSING
Transport temperature:
Room temperature.
Specimen stability:
Room temperature: 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
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

Performing Locations

GeneDx

Technical Lead: Michael Weaver    
Frequency: Turnaround Time: 3 weeks    
Performed stat? No
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