Es la Secuenciación de Nueva Generación (NGS por sus siglas en inglés) de 30 genes asociados con trastornos hematológicos.
Pacientes con diagnósticos de:
En pacientes con trastornos hematológicos y cariotipo normal se pueden detectar variantes en regiones codificantes, hot spots con una sensibilidad y especificidad del 99% y un límite de detección de 2.5% de la Frecuencia Alélica de la variante (VAF).
En 20 días hábiles.
Se requieren 4-8 ml de sangre periférica en tubo con EDTA (Vacutainer tapa morada), conservar en refrigeración de 2 a 8°C.
| Gene | Name | Chr. | Exon | RefSeq-ID |
|---|---|---|---|---|
| ABL1 | ABL proto-oncogene 1, non-receptor tyrosine kinase | 9 | 4-9 | NM 005157.5 |
| ASXL1 | ASXL transcriptional regulator 1 | 20 | 9, 11, 12, 14 | NM _015338.5 |
| BRAF | B-Raf proto-oncogene, serine/threonine kinase | 7 | 15 | NM 004333.4 |
| CALR | Calreticulin | 19 | 9 | NM 004343.3 |
| CBL | Cbl proto-oncogene | 11 | 8,9 | NM 005188.3 |
| CEBPA | CCAAT enhancer binding protein alpha | 19 | Alle | NM 004364.4 |
| CSF3R | Colony stimulating factor 3 receptor | 1 | Alle | NM 000760.3 |
| DNMT3A | DNA methyltransferase 3 alpha | 2 | Alle | NM 022552.4 |
| ETV6 | ETS variant 6 | 12 | Alle | NM 001987.4 |
| EZH2 | Enhancer of zeste 2 polycomb repressive complex 2 subunit | 7 | Alle | NM 004456.4 |
| FLT3 | Fms related tyrosine kinase 3 | 13 | 13-15, 20 | NM 004119.2 |
| HRAS | HRas proto-oncogene, GTPase | 11 | 2, 3 | NM 005343.3 |
| IDH1 | Isocitrate dehydrogenase (NADP(+)) 1, cytosolic | 2 | 4 | NM 005896.3 |
| IDH2 | Isocitrate dehydrogenase (NADP(+) 2, mitochondrial | 15 | 4 | NM 002168.3 |
| JAK2 | Janus kinase 2 | 9 | Alle | NM 004972.3 |
| KIT | KIT proto-oncogene, receptor tyrosine kinase | 4 | 2, 8-11, 13, 17, 18 | NM 000222.2 |
| KRAS | KRAS proto-oncogene, GTPase | 12 | 2,3 | NM 004985.4 |
| MPL | MPL proto-oncogene, thrombopoietin receptor | 1 | 10 | NM 005373.2 |
| NPM1 | Nucleophosmin 1 | 5 | 10, 11 | NM 002520.6 |
| NRAS | NRAS proto-oncogene, GTPase | 1 | 2,3 | NM 002524.4 |
| PTPN11 | Protein tyrosine phosphatase non-receptor type 11 | 12 | 3, 7-13 | NM 002834.4 |
| RUNX1 | RUNX family transcription factor 1 | 21 | Alle | NM 001754.4 |
| SETBP1 | SET binding protein 1 | 18 | 4 | NM 015559.2 |
| SF3B1 | Splicing factor 3b subunit 1 | 2 | 10-16 | NM 012433.3 |
| SRSF2 | Serine and arginine rich splicing factor 2 | 17 | 1 | NM 003016.4 |
| TET2 | Tet methylcytosine dioxygenase 2 | 4 | Alle | NM 001127208.2 |
| TP53 | Tumor protein p53 | 17 | 2-11 | NM 000546.5 |
| U2AF1 | U2 small nuclear RNA auxiliary factor 1 | 21 | 2,6 | NM 006758.2 |
| WT1 | WT1 transcription factor | 11 | 6-10 | NM 001198551.1 |
| ZRSR2 | Zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | X | Alle | NM 005089.3 |
