Pathology – GenoMed https://genomed.pt GenoMed Thu, 09 May 2024 22:03:36 +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 Pathology – 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

]]> Breast cancer: amplification of FGFR1 (8p12) and FGFR2 (10q26) genes, in paraffin https://genomed.pt/en/breast-cancer-amplification-of-fgfr1-8p12-and-fgfr2-10q26-genes-in-paraffin/ Sun, 13 Dec 2020 23:41:16 +0000 https://genomed.pt/?p=43640
Speciality(ies) / Other Speciality(ies)

Oncology

Pathology

Methodology

FISH

SNS Code

2×31710

OMIM

–

Gene Number

–

Test / Mutation List

FGFR1 e FGFR2

TAT

10 to 15 working days

Sample Type

Tissue samples / paraffin biopsies (3 sections with 50μm); stable at room temperature (RT)

]]> Breast cancer: PIK3CA https://genomed.pt/en/other-tumours-pik3ca-in-tumour-2/ Sat, 12 Dec 2020 23:27:24 +0000 https://genomed.pt/?p=43582
Speciality(ies) / Other Speciality(ies)

Oncology

Pathology

Methodology

Sequencing

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

PIK3CA (exons 1, 7, 9 and 20)

TAT

15 to 20 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT)
(5×5μm sections or tissue block or cellblock, with a fresh H&E slide)

]]> Colorectal cancer: BRAF (Val600) https://genomed.pt/en/colorectal-cancer-braf-val600/ Wed, 12 Aug 2020 01:56:53 +0000 https://genomed.pt/?p=19958
Speciality(ies) / Other Speciality(ies)

Oncology

Gastroenterology, Pathology

Methodology

Sequencing

SNS Code

36314

OMIM

–

Gene Number

–

Test / Mutation List

BRAF (Val600)

TAT

5 to 10 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT).
(10×10μm sections, tissue block or cellblock, with a fresh H&E slide)

]]> 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

]]> Colorectal cancer: KRAS, NRAS and BRAF (Val600) https://genomed.pt/en/colorectal-cancer-ras-kras-nras-and-braf-val600-tumour-tissue/ Wed, 12 Aug 2020 01:56:36 +0000 https://genomed.pt/?p=19950
Speciality(ies) / Other Speciality(ies)

Oncology

Gastroenterology, Pathology

Methodology

Real-Time PCR

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

KRAS reflex to NRAS and BRAF

TAT

5 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT)
(5×10μm sections or tissue block or cellblock, with a fresh H&E slide)

]]> Colorectal cancer: MLH1 promoter hypermethylation https://genomed.pt/en/colorectal-cancer-mlh1-promoter-hypermethylation/ Thu, 29 Apr 2021 18:21:30 +0000 https://genomed.pt/?p=58449
Speciality(ies) / Other Speciality(ies)

Oncology

Gastroenterology, Pathology

Methodology

MSP

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

MLH1

TAT

15 to 20 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT).
(10×10μm sections, tissue block or cellblock, with a fresh H&E slide)

]]> Colorectal cancer: MSI (Microsatellite Instability) https://genomed.pt/en/colorectal-cancer-msi-microsatellite-instability/ Wed, 12 Aug 2020 01:57:01 +0000 https://genomed.pt/?p=19962
Speciality(ies) / Other Speciality(ies)

Oncology

Gastroenterology, Pathology

Methodology

Fragment analysis

SNS Code

34650

OMIM

–

Gene Number

–

Test / Mutation List

MSI

TAT

10 to 15 working days

Sample Type

Formalin fix and paraffin embed tumour and normal tissue or Peripheral blood in EDTA ; fixed tissue stable at room temperature (RT) and peripheral blood stable for 48h at room temperature (RT) or 72h refrigerated
(10×10μm sections in separate tubes or tumour and normal tissue blocks, both with a fresh H&E slide)

]]> Endometrial cancer: MLH1 promoter hypermethylation https://genomed.pt/en/endometrial-cancer-mlh1-promoter-hypermethylation/ Thu, 29 Apr 2021 18:21:03 +0000 https://genomed.pt/?p=58445
Speciality(ies) / Other Speciality(ies)

Oncology

Pathology

Methodology

MSP

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

MLH1

TAT

15 to 20 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT).
(10×10μm sections, tissue block or cellblock, with a fresh H&E slide)

]]> Endometrial cancer: POLE https://genomed.pt/en/endometrial-cancer-pole/ Wed, 28 Apr 2021 14:56:23 +0000 https://genomed.pt/?p=57695
Speciality(ies) / Other Speciality(ies)

Oncology

Pathology

Methodology

Sequencing

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

POLE (exons 9, 11, 13 and 14)

TAT

5 to 10 working days

Sample Type

Formalin fix and paraffin embed tumour tissue; stable at room temperature (RT).
(10×10μm sections, tissue block or cellblock, with a fresh H&E slide)

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