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Specimen Collection Manual and Test Catalog

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CYSTIC KIDNEY AND LIVER DISEASE PANEL, GENEDX

Geisinger Epic Procedure Code:  LAB4038    Geisinger Epic ID:  167406
Test Restriction:  ORDER LIMITED TO GENETICS

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: 

Refrigerated.


Specimen stability: 

Refrigerated: 7 days.



TEST DETAILS
CPT code(s):  81403x1, 81404x2, 81405x3, 81406x4, 81407x1, 81408x2, 81479x3
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.

Test includes: 

AHI1, ALG8, ALG9, ANKS6, BICC1, CC2D2A, CEP120, CEP290, CEP83, COL4A1, CRB2, CSPP1, GANAB, GLIS2, GLIS3, HNF1B, IFT172, INVS, IQCB1, JAG1, LRP5, MKKS, MKS1, NEK8, NOTCH2, NPHP1, NPHP3, OFD1, PAX2, PKD1, PKD2, PKHD1, PMM2, PRKCSH, RMND1, RPGRIP1L, SEC61A1, SEC63, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TSC1, TSC2, TTC21B, UMOD, VHL, WDR35


Methodology: 
Deletion/Duplication Analysis
Next Generation Sequencing
Synonyms: 

GeneDx Code TG23


Clinical significance: 

Molecular confirmation of a clinical diagnosis. Development of appropriate evaluation and management plan. Evaluation of family members as possible donors for kidney/liver transplantation. Testing of at-risk relatives for specific known variant(s) previously identified in an affected family member. Prenatal diagnosis for known familial pathogenic variant(s) in at-risk pregnancies. Genetic counseling, especially recurrence risk and prenatal diagnosis.


Doctoral Director(s): 
Randin Nelson MD
Review Date:  12/16/2024

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