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INHERITED BONE MARROW FAILURE SYNDROMES , PANEL MASSIVE SEQUENCING (NGS) 92 GENES
| Test Code |
58167 |
|---|---|
| Gene/s |
See all genes ![]() Hide all genes ![]() 92 gens |
| Specific Gene |
ABCB7, AK2, ALAS2, ANKRD26, AP3B1, BRCA2, BRIP1, CALR, CASP10, CBL, CDAN1, CSF3R, CTC1, CXCR4, DKC1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, G6PC3, GATA1, GATA2, GFI1, HAX1, HOXA11, JAGN1, JAK2, KLF1, LAMTOR2, LYST, MASTL, MPL, MYH9, NBN, NHP2, NOP10, PALB2, PARN, PRF1, PUS1, RAB27A, RAC2, RAD51C, RBM8A, RMRP, RPL11, RPL15, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS15, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RTEL1, SBDS, SEC23B, SLC19A2, SLC25A38, SLC37A4, SLC46A1, SLX4, SRP72, STX11, STXBP2, TAZ, TCN2, TERC, TERT, TINF2, UBE2T, USB1, VPS13B, VPS45, WAS, WRAP53, XRCC2 |
| Analysis Methods |
Massive sequencing data analysis (NGS) |
| Sample Requirements |
5 mL whole blood (EDTA). Necessary clinical and family history. |
| TAT |
30 days |
| Omim G |
– |
| Omim F |
– |
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