NGS – GenoMed https://genomed.pt GenoMed Tue, 02 May 2023 22:08:50 +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 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

]]> Familial intrahepatic cholestasis: genes ABCB11, ABCB4, ATP8B1 https://genomed.pt/en/familial-intrahepatic-cholestasis-genes-abcb11-abcb4-atp8b1/ Wed, 12 Aug 2020 03:57:45 +0000 https://genomed.pt/?p=21126
Speciality(ies) / Other Speciality(ies)

Gastroenterology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

3

Test / Mutation List

ABCB11, ABCB4, ATP8B1

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Hemochromatosis: gene panel https://genomed.pt/en/hemochromatosis-gene-panel/ Wed, 12 Aug 2020 03:59:32 +0000 https://genomed.pt/?p=21174
Speciality(ies) / Other Speciality(ies)

Gastroenterology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

7

Test / Mutation List

FTH1, FTL, HAMP, HFE, HFE2, SLC40A1, TFR2

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Hereditary colorectal cancer: gene panel https://genomed.pt/en/hereditary-colorectal-cancer-gene-panel/ Wed, 12 Aug 2020 04:31:16 +0000 https://genomed.pt/?p=22002
Speciality(ies) / Other Speciality(ies)

Oncology

Gastroenterology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

39

Test / Mutation List

APC, ATM, AURKA, AXIN2, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CCND1, CDH1, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH6, MSH3, MUTYH, NTHL1, ODC1, PIF1, PLA2G2A, POLD1, POLE, PMS2, PTEN, RBL1, RNF43, RPS20, SMAD4, SMAD7, STK11, TELO2, TGFBR2, TP53, XAF1

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Hereditary pancreatic cancer: gene panel https://genomed.pt/en/hereditary-pancreatic-cancer-gene-panel/ Wed, 12 Aug 2020 04:31:41 +0000 https://genomed.pt/?p=22014
Speciality(ies) / Other Speciality(ies)

Oncology

Gastroenterology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

18

Test / Mutation List

APC, ATM, BMPR1A, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, SPINK1, STK11, TP53

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Hereditary pancreatitis: gene panel https://genomed.pt/en/hereditary-pancreatitis-gene-panel/ Wed, 12 Aug 2020 04:00:18 +0000 https://genomed.pt/?p=21194
Speciality(ies) / Other Speciality(ies)

Gastroenterology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

8

Test / Mutation List

CASR, CFTR, CLDN2, CPA1, CTRC, SPINK1, PRSS1, PRSS2

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Hereditary porphyria: gene panel https://genomed.pt/en/hereditary-porphyria-gene-panel/ Wed, 12 Aug 2020 04:00:54 +0000 https://genomed.pt/?p=21210
Speciality(ies) / Other Speciality(ies)

Gastroenterology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

9

Test / Mutation List

ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Inflammatory bowel disease : gene panel https://genomed.pt/en/inflammatory-bowel-disease-gene-panel/ Wed, 12 Aug 2020 02:30:02 +0000 https://genomed.pt/?p=20534
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Pediatrics, Immunodeficiencies, Reumatology, Gastroenterology, Internal Medicine

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

55

Test / Mutation List

ADA, ADAM17, AICDA, BTK, CD3G, CD40LG, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, EPCAM, FOXP3, G6PC3, ICOS, IL10, IL10RA, IL10RB, IL21, IL2RA, IL2RG, ITGB2, LIG4, LRBA, MALT1, MEFV, MVK, MYO5B, NCF1, NCF2, NCF4, NEUROG3, NFAT5, NLRC4, NOD2, PIK3CD, PIK3R1, PLCG2, RAG1, RAG2, RTEL1, SH2D1A, SI, SKIV2L, SLC37A4, STAT1, STAT3, STIM1, STXBP2, TTC37, TTC7A, WAS, XIAP, ZAP70

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Lynch syndrome: genes MLH1, MSH2, MSH6, PMS2 https://genomed.pt/en/lynch-syndrome-genes-mlh1-msh2-msh6-pms2/ Wed, 12 Aug 2020 04:38:48 +0000 https://genomed.pt/?p=22198
Speciality(ies) / Other Speciality(ies)

Oncology

Gastroenterology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

PS120435

Gene Number

4

Test / Mutation List

MLH1, MSH2, MSH6, PMS2

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

]]> Lynch syndrome: MLH1 and MSH2 genes https://genomed.pt/en/lynch-syndrome-mlh1-and-msh2-genes/ Wed, 12 Aug 2020 04:38:31 +0000 https://genomed.pt/?p=22190
Speciality(ies) / Other Speciality(ies)

Oncology

Gastroenterology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

2

Test / Mutation List

MLH1, MSH2

TAT

2 to 3 months

Sample Type

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.

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