Geisinger Medical Laboratories/Geisinger Proven Diagnostics Test Catalog

Order Display Name: Geisinger Epic Procedure Code Or ID CPT Code:  

ALPORT SYNDROME PANEL, GENEDX

ORDERING INFORMATION:
Geisinger Epic Procedure Code: LAB4040         Geisinger Epic ID: 167408

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):
81407x1, 81408x2
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:
CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
Methodology:
Deletion/Duplication Analysis
Next Generation Sequencing
Synonyms:
GENEDX CODE TG21
Clinical significance:
Molecular confirmation of a clinical diagnosis. Development of appropriate evaluation and management plan. Differentiation between X-linked and autosomal recessive or dominant forms of the disease. Evaluation of family members as possible donors for kidney 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.

Performing Locations

GeneDx

Technical Lead: Michael Weaver    
Frequency: Turnaround time: 4 weeks    
Performed STAT? No
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