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Analysis of common SERPINA1 gene variants (e.g., *S and *Z) associated with alpha-1-antitrypsin deficiency.
2025 CPT code 81307
Analysis of the entire PALB2 gene sequence; detects variants associated with breast and pancreatic cancer risk.
2025 CPT code 81189
Analysis of the full cystatin B gene (CSTB) sequence.
2025 CPT code 81161
Analysis of deletions and duplications in the dystrophin gene (DMD), associated with Duchenne and Becker muscular dystrophy.
2025 CPT code 81239
Characterization of DMPK gene alleles (e.g., expanded size) for conditions like myotonic dystrophy type 1.
2025 CPT code 81347
Analysis of common variants in the SF3B1 gene, associated with myelodysplastic syndrome and acute myeloid leukemia.
2025 CPT code 81297
Analysis of the MSH2 gene for duplications and deletions.
2025 CPT code 81259
Full gene sequence analysis of HBA1/HBA2 genes (alpha globin 1 and alpha globin 2) related to alpha thalassemia and some hemoglobinopathies.
2025 CPT code 81257
Analysis of HBA1/HBA2 genes (alpha globin 1 and 2) for common deletions or variants associated with alpha thalassemia and other hemoglobinopathies.
2025 CPT code 81108
This code represents Human Platelet Antigen 4 (HPA-4) genotyping, analyzing common variants HPA-4a/b (R143Q) in the ITGB3 gene.The test aids in diagnosing conditions such as neonatal alloimmune thrombocytopenia (NAIT).
2025 CPT code 81362
Analysis of the HBB gene for known familial variants.
2025 CPT code 81326
Analysis of the PMP22 gene for known familial variants associated with conditions like Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies.
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