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Geisinger Medical Laboratories Test Catalog
ALPORT SYNDROME PANEL, GENEDX
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Geisinger Epic Procedure Code: LAB4040
Geisinger Epic ID: 167408
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SPECIMEN COLLECTION |
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Specimen type: |
EDTA whole blood (preferred) OR 2 buccal swabs | |
Preferred collection container: |
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Alternate Collection Container: |
3 mL lavender-top (K2 EDTA) tube
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Specimen required: |
2-5 mL EDTA whole blood OR 2 buccal swabs | |
| SPECIMEN PROCESSING |
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Transport temperature: |
Refrigerated. | |
Specimen stability: |
Refrigerated: 7 days. | |
TEST DETAILS |
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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 |
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Synonyms: |
GENEDX CODE TG21
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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. | |