NGS – GenoMed https://genomed.pt GenoMed Mon, 17 Feb 2025 23:03:43 +0000 en-GB hourly 1 https://wordpress.org/?v=6.1.8 https://genomed.pt/wp-content/uploads/2020/06/cropped-favicon-genomed-32x32.png NGS – GenoMed https://genomed.pt 32 32 Bladder cancer: Bladder by NGS https://genomed.pt/en/bladder-cancer-bladder-by-ngs/ Wed, 10 May 2023 22:03:18 +0000 https://genomed.pt/?p=115196
Speciality(ies) / Other Speciality(ies)

Oncology

Urology, Pathology

Methodology

NGS

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

Mutations (Hotspots): AKT1; ALK; BRAF; DDR2; EGFR; FGFR2; FGFR3; ERBB2 (HER2); ERBB3 (HER3); ERBB4 (HER4); KRAS; MAP2K1; MET; NRAS; PIK3CA; RET; ROS1
Fusion drivers: ALK; FGFR1; FGFR2; FGFR3; MET (skipping exão 14); NTRK1; NTRK2; NTRK3; ROS1; RET
CNVs: EGFR; FGFR1; FGFR2; ERBB2 (HER2); KRAS; MET
((To allow a correct CNV analysis the percentage of neoplastic cells in the sample should be higher than a 50%)

TAT

10 to 15 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT)
(6×20μm sections or tissue block or cellblock, with a fresh H&E slide)
or
Cytological sample in collection medium; stable for 4-6 weeks

]]> Colorectal cancer: CCR by NGS https://genomed.pt/en/colorectal-cancer-ccr-standard-by-ngs/ Sat, 12 Dec 2020 23:26:58 +0000 https://genomed.pt/?p=43574
Speciality(ies) / Other Speciality(ies)

Oncology

Gastroenterology, Pathology

Methodology

NGS

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

Mutations (Hotspots): BRAF; EGFR; ERBB2 (HER2); ERBB3 (HER3); KRAS; NRAS; PIK3CA
Fusion drivers: NTRK1; NTRK2; NTRK3
CNVs: HER2; MET
(To allow a correct CNV analysis the percentage of neoplastic cells in the sample should be higher than a 50%)

TAT

10 to 15 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT)
(6×20μm sections or tissue block or cellblock, with a fresh H&E slide)
or
Cytological sample in collection medium; stable for 4-6 weeks

]]> Lung cancer: Lung by NGS https://genomed.pt/en/lung-cancer-lung-by-ngs/ Mon, 21 Mar 2022 12:09:46 +0000 https://genomed.pt/?p=114020
Speciality(ies) / Other Speciality(ies)

Oncology

Pulmonary Oncology, Pathology

Methodology

NGS

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

Mutations (Hotspots): AKT1; ALK; BRAF; DDR2; EGFR; FGFR2; FGFR3; ERBB2 (HER2); ERBB3 (HER3); ERBB4 (HER4); KRAS; MAP2K1; MET; NRAS; PIK3CA; RET; ROS1
Fusion drivers: ALK; FGFR1; FGFR2; FGFR3; MET (skipping exão 14); NTRK1; NTRK2; NTRK3; ROS1; RET
CNVs: EGFR; FGFR1; FGFR2; ERBB2 (HER2); KRAS; MET
((To allow a correct CNV analysis the percentage of neoplastic cells in the sample should be higher than a 50%)

TAT

10 to 15 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT)
(6×20μm sections or tissue block or cellblock, with a fresh H&E slide)
or
Cytological sample in collection medium; stable for 4-6 weeks

]]> Other tumours: Biomarkers panel for Solid Tumors by NGS https://genomed.pt/en/other-tumours-biomarkers-panel-for-solid-tumors-by-ngs/ Wed, 12 Aug 2020 01:59:20 +0000 https://genomed.pt/?p=20026
Speciality(ies) / Other Speciality(ies)

Oncology

Pathology

Methodology

NGS

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

Mutations (Hotspots – 35 genes): AKT1; ALK; AR; BRAF; CDK4; CTNNB1; DDR2; EGFR; ERBB2 (HER2); ERBB3 (HER3); ERBB4 (HER4); ESR1; FGFR2; FGFR3; GNA11; GNAQ; HRAS; IDH1; IDH2; JAK1; JAK2; JAK3; KIT; KRAS; MAP2K1 (MEK1); MAP2K2 (MEK2); MET; MTOR; NRAS; PDGFRA; PIK3CA; RAF1; RET; ROS1; SMO
Fusion drivers (23 genes): ABL1; AKT3; ALK; AXL; BRAF; EGFR; EGFRvIII; ERBB2 (HER2); ERG; ETV1; ETV4; ETV5; FGFR1; FGFR2; FGFR3; MET; NTRK1; NTRK2; NTRK3; PDGFRA; PPARG; RAF1; RET; ROS1
CNVs (19 genes): AKT1; ALK; AR; BRAF; CCND1; CDK4; CDK6; EGFR; ERBB2 (HER2); FGFR1; FGFR2; FGFR3; FGFR4; KIT; KRAS; MET; MYC; MYCN; PDGFRA; PIK3CA
(To allow a correct CNV analysis the percentage of neoplastic cells in the sample should be higher than a 50%)

TAT

15 to 20 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT)
(6×20μm sections or tissue block or cellblock, with a fresh H&E slide)
or
Cytological sample in collection medium; stable for 4-6 weeks

]]> Other tumours: NTRK1, NTRK2, NTRK3 rearrangements by NGS https://genomed.pt/en/other-tumours-ntrk1-ntrk2-ntrk3-rearrangements-by-ngs/ Sat, 12 Dec 2020 23:27:10 +0000 https://genomed.pt/?p=43578
Speciality(ies) / Other Speciality(ies)

Oncology

Pathology

Methodology

NGS

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

Fusion drivers: NTRK1; NTRK2; NTRK3

TAT

10 to 15 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT)
(6×20μm sections or tissue block or cellblock, with a fresh H&E slide)
or
Cytological sample in collection medium; stable for 4-6 weeks

]]> Thyroid cancer: Thyroid by NGS https://genomed.pt/en/thyroid-cancer-thyroid-by-ngs/ Wed, 17 May 2023 22:03:02 +0000 https://genomed.pt/?p=115223
Speciality(ies) / Other Speciality(ies)

Oncology

Endocrinology, Pathology

Methodology

NGS

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

Mutations (Hotspots): BRAF; HRAS; KRAS; NRAS; PIK3CA; RET
Fusion drivers: ALK; BRAF; NTRK1; NTRK2; NTRK3; PPARG; RET.

TAT

10 to 15 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT)
(6×20μm sections or tissue block or cellblock, with a fresh H&E slide)
or
Cytological sample in collection medium; stable for 4-6 weeks

]]>