TAT
6 weeks
CPT Code
81443
Test Code
5166
Test Methods
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Documents
Genes
Additional Information
Sample specifications: 2 T-25 flasks of cultured skin fibroblasts (Recommended); Skin biopsy for culturing skin fibroblasts; Extracted DNA (From fibroblasts if the patient has a history of MDS/leukemia); 3 to 10 cc of blood in a purple top (EDTA) tube
Variants within exon 15 of the PMS2 gene may not be analyzed or reported due to homology issues. Due to high homology, the sensitivity of this assay may be reduced in exon 2 and exons 12-15 of PMS2.
NOTE: We cannot bill insurance for this test.
Peripheral blood samples are not preferred for patients with a history of MDS/leukemia