Test code: 5056; 2751; 3803; 3804; 7973; 7825; 7743; 7975; 3633; 8268; 7778; 7672; 8174; 8175; 4252; 3632; 1337; 3089; 4137; 1352; 1768; 1490; 1870; 7989; 3805; 1345; 7903
Effective update from 22/01/2020
| TEST CODE | NEW DESCRIPTION | PREVIOUS DESCRIPTION |
| 2751 | LYMPHOCYTES T CLONALITY - LYMPHOCYTE RECEPTOR T TCR REARRANGEMENT · TCRG · FRAGMENT A. | LYMPHOCYTES T CLONALITY - REARRANGEMENT - TCRG - A.FRAGMENTS |
| 5056 | LYMPHOCYTES T CLONALITY - REARRANGEMENT · TCRB · FRAGMENT A. | LYMPHOCYTES T CLONALITY - REARRANGEMENT - TCRB - A.FRAGMENTS |
| 3803 | ACUTE MYELOID LEUKEMIA · NPM1 · FRAGMENT A. | NPM1 (exon 12) screening, total blood/bone marrow |
| 3804 | ACUTE MYELOID LEUKEMIA · FLT3/ITD · FRAGMENT A. | FLT3 (FLT3-ITD, FLT3-Asp835) screening, total blood/bone marrow |
| 7973 | ONCOTYPE BREAST · PANEL · NGS | ONCOTYPE BREAST |
| 7743 | HEREDITARY PANCREAS CANCER · PANEL · NGS | HEREDITARY PANCREAS - PANEL - NGS |
| 7825 | SOLID TUMOR (ACTIONABLE PANEL) · PANEL · NGS | ACTIONABLE PANEL |
| 7975 | ONCOTYPE PROSTATA · PANEL · NGS | ONCOTYPE PROSTATE |
| 3633 | RETINOBLASTOMA · RB1 · NGS | Retinoblastoma (RB1) sequencing, total blood |
| 4252 | HEREDITARY BREAST, OVARIAN CANCER · BRCA1, BRCA2 · NGS+MLPA | Breast/ovarian cancer (BRCA1, BRCA2) NGS/MLPA, whole blood |
| 8268 | PROSTATE CANCER · BRCA1, BRCA2 · NGS+MLPA | PROSTATE CANCER · BRCA1, BRCA2 · NGS+MLPA |
| 7672 | HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA · PANEL A · NGS+MLPA | Hereditary Paraganglioma-Pheochromocytoma , 14 gens sequencing, total blood |
| 7778 | HEREDITARY MELANOMA · PANEL · NGS+MLPA | HEREDITARY MELANOMA - 12 GENES - SEQUENCING |
| 8174 | HEREDITARY NONPOLYPOSIS COLORECTAL CANCER · PANEL · NGS+MLPA | HEREDITARY NONPOLYPOSIS COLORECTAL CANCER · PANEL · NGS+MLPA |
| 8175 | HEREDITARY POLYPOSIS COLORECTAL CANCER · PANEL B · NGS+MLPA | HEREDITARY POLYPOSIS COLORECTAL CANCER · PANEL 2 · NGS+MLPA |
| 1337 | HEREDITARY MELANOMA · CDKN2A · SANGER | Hereditary Melanoma (CDKN2A) sequencing, whole blood |
| 1352 | PEUTZ-JEGHERS SYNDROME · STK11 · SANGER | Peutz-Jeghers Syndrome (STK11) sequencing, total blood |
| 1490 | VON HIPPEL-LINDAU SYNDROME · VHL · SANGER | Von Hippel-Lindau Syndrome (VHL) sequencing, total blood |
| 1768 | PTEN RELATED SYNDROMES · PTEN · SANGER | PTEN, sequencing, total blood |
| 1870 | HEREDITARY BREAST AND OVARIAN CANCER · RAD51C · SANGER | Breast/ovarian cancer (RAD51C) sequencing, total blood |
| 3089 | MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 · MEN1 · SANGER | Multiple Endocrine Neoplasia type 1, MEN1 (MEN1) sequencing, total blood |
| 3632 | LI-FRAUMENI SYNDROME · TP53 · SANGER | TP53, sequencing, whole blood |
| 3805 | ACUTE MYELOID LEUKEMIA · CEBPA · SANGER | CEBPA, screening, total blood/bone marrow |
| 4137 | MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 · CDKN1B · SANGER | MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 - CDKN1B - SEQUENCING |
| 7989 | HEMATOLOGICAL NEOPLASIAS · CXCR4 · SANGER | HEMATOLOGICAL NEOPLASMS - CXCR4 - SEQUENCING |
| 1345 | HEREDITARY BREAST, OVARIAN CANCER · CHEK2 · SANGER | Breast/ovarian cancer (CHEK2) NGS, whole blood |
| 7903 | MYELODYSPLASTIC SYNDROME · TET2 · SANGER | MYELODYSPLASTIC SYNDROME - TET2 - NGS |
| TEST CODE | NEW METHOD | PREVIOUS METHOD |
| 2751 | Cleave Assay | Multiplex PCR |
| 5056 | Cleave Assay | Multiplex PCR |
| 3803 | Cleave Assay | Polymerase Chain Reaction (PCR) |
| 3804 | Cleave Assay | Polymerase Chain Reaction (PCR) |
| 7973 | Next Generation Sequencing (NGS) | - |
| 7743 | Next Generation Sequencing (NGS) | Sequencing Method |
| 7825 | Next Generation Sequencing (NGS) | Sequencing Method |
| 7975 | Next Generation Sequencing (NGS) | Real-Time PCR |
| 3633 | Next Generation Sequencing (NGS) | Sequencing Method |
| 4252 | Next Generation Sequencing (NGS) + MLPA | Sequencing / Multiplex Ligation-dependent Probe Amplification-MLPA |
| 8268 | Next Generation Sequencing (NGS) + MLPA | Sequencing / Multiplex Ligation-dependent Probe Amplification-MLPA |
| 7672 | Next Generation Sequencing (NGS) + MLPA | Next Generation Sequencing (NGS) |
| 7778 | Next Generation Sequencing (NGS) + MLPA | Next Generation Sequencing (NGS) |
| 8174 | Next Generation Sequencing (NGS) + MLPA | Next Generation Sequencing (NGS) |
| 8175 | Next Generation Sequencing (NGS) + MLPA | Next Generation Sequencing (NGS) |
| 1337 | Sanger sequencing | Sequencing Method |
| 1352 | Sanger sequencing | Sequencing Method |
| 1490 | Sanger sequencing | Sequencing Method |
| 1768 | Sanger sequencing | Sequencing Method |
| 1870 | Sanger sequencing | Sequencing Method |
| 3089 | Sanger sequencing | Sequencing Method |
| 3632 | Sanger sequencing | Sequencing Method |
| 3805 | Sanger sequencing | Sequencing Method |
| 4137 | Sanger sequencing | Sequencing Method |
| 7989 | Sanger sequencing | Sequencing Method |
| 1345 | Sanger sequencing | Next Generation Sequencing (NGS) |
| 7903 | Sanger sequencing | Next Generation Sequencing (NGS) |
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