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Specimen Collection Manual and Test Catalog

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ALPORT SYNDROME PANEL, GENEDX

Geisinger Epic Procedure Code:  LAB4040    Geisinger Epic ID:  167408
Test Restriction:  ORDER LIMITED TO GENETICS

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, 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: 

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.


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

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