Discontinuation of tests due to technical improvement. The NGS methodology includes the study of CNVs.
Effective update from 25/11/2024
|
STUDY |
ALTERNATIVE |
||||
|
Test Code |
Mnemonic Code |
Description |
Test Code |
Mnenonic
Code |
Description |
|
9752 |
G14124 |
HEREDITARY BREAST, OVARIAN CANCER · BRCA1, BRCA2 ·
NGS+ CNV |
3414 |
G2046 |
Breast/ovarian cancer (BRCA1, BRCA2) NGS, whole
blood |
|
9755 |
G14126 |
PROSTATE CANCER · BRCA1, BRCA2 ·
NGS+CNV |
3414 |
G2046 |
Breast/ovarian cancer (BRCA1, BRCA2) NGS, whole
blood |
|
8552 |
G03145 |
GLYCOGEN STORAGE DISEASE
TYPE 2 · GAA · NGS+MLPA |
1940 |
G03144 |
GLYCOGEN STORAGE DISEASE TYPE II · GAA · NGS |
|
8259 |
G09023 |
POLYCYSTIC KIDNEY DISEASE ·
PANEL · NGS+MLPA |
3675 |
G09022 |
POLYCYSTIC KIDNEY DISEASE · PANEL 1 · NGS |
|
8236 |
G10009 |
CYSTIC FIBROSIS · CFTR ·
NGS+MLPA |
4095 |
G10008 |
Cystic Fibrosis (CFTR) sequencing, total blood |
|
8410 |
G13002 |
FANCONI ANEMIA · PANEL · NGS+MLPA |
4799 |
G13001 |
FANCONI ANEMIA · PANEL · NGS |
|
8406 |
G14004 |
HEREDITARY COLORECTAL CANCER
· PANEL · NGS+MLPA |
8408 |
G14010 |
HEREDITARY
NONPOLYPOSIS COLORECTAL CANCER
· PANEL B · NGS |
|
8407 |
G14009 |
HEREDITARY NONPOLYPOSIS
COLORECTAL CANCER EXTENDED · PANEL · NGS+MLPA |
8408 |
G14010 |
HEREDITARY
NONPOLYPOSIS COLORECTAL CANCER
· PANEL B · NGS |
|
8409 |
G14012 |
HEREDITARY POLYPOSIS
COLORECTAL BASIC, CANCER · PANEL A · NGS+MLPA |
3785 |
G2031 |
POLYPOSIS COLORECTAL CANCER · APC, MUTYH · NGS |
|
8405 |
G14017 |
COWDEN SYNDROME · PANEL ·
NGS+MLPA |
8404 |
G14016 |
COWDEN SYNDROME · PANEL · NGS |
|
7672 |
G14019 |
HEREDITARY
PHEOCHROMOCYTOMA-PARAGANGLIOMA · PANEL A · NGS+MLPA |
8402 |
G14022 |
HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA · PANEL · NGS |
|
7412 |
G14020 |
HEREDITARY PARAGANGLIOMA-
PHEOCROMOCYTOMA · PANEL 2 · NGS+MLPA |
8402 |
G14022 |
HEREDITARY
PHEOCHROMOCYTOMA-PARAGANGLIOMA · PANEL · NGS |
|
8367 |
G14024 |
FAMILIAL GASTRIC DIFFUSE
CANCER · CDH1, MAP3K6 · NGS+MLPA |
8403 |
G14028 |
FAMILIAL GASTRIC (INCLUDED DIFFUSE GASTRIC) CANCER ·
PANEL · NGS |
|
8372 |
G14030 |
GORLIN-GOLTZ (BASAL CELLS
NEVUS) SYNDROME (A+B) · PANEL · NGS+MLPA |
8374 |
G14032 |
GORLIN-GOLTZ (BASAL CELLS NEVUS) SYNDROME · PANEL ·
NGS |
|
8400 |
G14039 |
HEREDITARY BREAST, OVARIAN
CANCER · PANEL · NGS+MLPA |
5413 |
BR16 |
HEREDITARY BREAST, OVARIAN AND ENDOMETRIAL CANCER
(BRCA + 16 GENES) · PANEL · NGS+CNV |
|
8395 |
G14062 |
HEREDITARY OVARIAN CANCER ·
PANEL · NGS+MLPA |
8391 |
G14088 |
HEREDITARY BREAST, OVARIAN CANCER · PANEL · NGS |
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