Internal Medicine – GenoMed https://genomed.pt GenoMed Tue, 11 Jun 2024 22:02:57 +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 Internal Medicine – GenoMed https://genomed.pt 32 32 Aneurysm / thoracic aortic dissection: ACTA2 gene https://genomed.pt/en/aneurysm-thoracic-aortic-dissection-acta2-gene/ Wed, 12 Aug 2020 01:48:32 +0000 https://genomed.pt/?p=19730
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Angiology and Vascular Surgery, Cardiothoracic Surgery, Internal Medicine, Reumatology

Methodology

Sequencing

SNS Code

34900

OMIM

#611788

Gene Number

1

Test / Mutation List

ACTA2

TAT

4 to 6 weeks

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.

]]> Angiotensin converting enzyme (ACE) I/D polymorphism genotype https://genomed.pt/en/angiotensin-converting-enzyme-ace-i-d-polymorphism-genotype/ Wed, 12 Aug 2020 02:19:20 +0000 https://genomed.pt/?p=20334
Speciality(ies) / Other Speciality(ies)

Cardiology

Internal Medicine

Methodology

PCR

SNS Code

34900

OMIM

106180

Gene Number

1

Test / Mutation List

ACE

TAT

2 to 4 weeks

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.

]]> Aortic / connective tissue diseases (extended panel): gene panel https://genomed.pt/en/aortic-connective-tissue-diseases-extended-panel-gene-panel/ Tue, 08 Sep 2020 01:12:13 +0000 https://genomed.pt/?p=31170
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Angiology and Vascular Surgery, Cardiothoracic Surgery, Internal Medicine, Reumatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

122

Test / Mutation List

ABCC6, ABL1, ACTA2, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, AEBP1, ALDH18A1, ALPL, ARHGAP31, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B3GLCT, B4GALT7, BGN, BMP1, BMP4, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL18A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, COX7B, CREB3L1, CRTAP, DCC, DLL4, DOCK6, DSE, EFEMP2, ELN, EMILIN1, EOGT, FBLN5, FBN1, FBN2, FKBP10, FKBP14, FLCN, FLNA, FOXE3, GAA, GGCX, GZF1, IPO8, GORAB, GYPC, HRAS, IFITM5, KCNJ8, KIF22, LOX, LRP5, LTBP2, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, P3H1, PIEZO2, PLOD1, PLOD2, PLOD3, PLS3, PPIB, PRDM5, PRKG1, PTPN11, PYCR1, RBPJ, RET, RIN2, ROBO3, SERPINF1, SERPINH1, SGMS2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SP7, SPARC, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, THBS2, TMEM38B, TNXB, VCAN, WNT1, ZNF469

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.

]]> Aortic / connective tissue diseases: gene panel (basic panel) https://genomed.pt/en/aortic-connective-tissue-diseases-gene-panel/ Wed, 12 Aug 2020 02:19:11 +0000 https://genomed.pt/?p=20330
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Angiology and Vascular Surgery, Cardiothoracic Surgery, Internal Medicine, Reumatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

65

Test / Mutation List

ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL4, ATP7A, B3GALT6, B3GLCT, B4GALT7, BGN, C1R, C1S, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, DSE, EFEMP2, ELN, FBN1, FBN2, FKBP14, FLCN, FLNA, FOXE3, GAA, HRAS, IPO8, KCNJ8, LOX, LTBP2, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PTPN11, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, THBS2, TNXB, ZNF469

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.

]]> Aortic diseases: gene panel https://genomed.pt/en/aortic-diseases-gene-panel/ Wed, 12 Aug 2020 02:24:02 +0000 https://genomed.pt/?p=20458
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Angiology and Vascular Surgery, Cardiothoracic Surgery, Internal Medicine, Reumatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

PS607086

Gene Number

31

Test / Mutation List

ACTA2, CBS, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FLNA, GATA5, IPO8, LOX, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRKG1, SKI, SLC2A10, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB

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.

]]> Arterial hypertension: gene panel https://genomed.pt/en/monogenic-hypertension-gene-panel-2/ Sat, 15 Aug 2020 00:02:28 +0000 https://genomed.pt/?p=22515
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Nephrology, Internal Medicine, Endocrinology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

27

Test / Mutation List

AOC1, ASIC3, CLCNKB, CUL3, CYP11B1, CYP11B2, CYP17A1, HSD11B2, KCNH2, KCNJ1, KLHL3, NOS3, NR3C2, PDE3A, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC12A1, SLC12A3, SCNN1B, SCNN1G, VHL, WNK1, WNK4

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.

]]> Brugada syndrome: gene panel https://genomed.pt/en/brugada-syndrome-gene-panel/ Wed, 12 Aug 2020 02:24:20 +0000 https://genomed.pt/?p=20466
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Internal Medicine, Reumatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

PS601144

Gene Number

42

Test / Mutation List

ABCC9, AKAP9, ANK2, ANK3, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CAV3, DPP6, FGF12, GPD1L, HCN4, IRX5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, PKP2, PXDNL, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SEMA3A, SLMAP, SNTA1, TRDN, TRPM4

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.

]]> Brugada syndrome: gene SCN5A https://genomed.pt/en/brugada-syndrome-gene-scn5a/ Wed, 12 Aug 2020 02:24:11 +0000 https://genomed.pt/?p=20462
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Internal Medicine, Reumatology

Methodology

Sequencing

SNS Code

34900

OMIM

#601144

Gene Number

1

Test / Mutation List

SCN5A

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.

]]> Cardiac arrhythmias: gene panel https://genomed.pt/en/cardiac-arrhythmias-gene-panel/ Wed, 12 Aug 2020 02:18:44 +0000 https://genomed.pt/?p=20318
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Internal Medicine, Reumatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

202

Test / Mutation List

A2ML1, AARS2, ABCC9, ACAD9, ACADVL, ACTA1, ACTC1, ACTN2, AGK, AGL, AGPAT2, AKAP9, ALMS1, ANK2, ANKRD1, ANO5, ATP5E, ATPAF2, BAG3, BRAF, BSCL2, CACNA1C, CACNA1D, CACNA2D1, CALM1, CALM2, CALM3, CALR3, CAPN3, CASQ2, CAV3, CAVIN4, CDH2 ,CHRM2, COA5, COA6, COQ2, COX15, COX6B1, CRYAB, CSRP3, CTNNA3, DES, DLD, DMD, DNAJC19, DOLK, DPP6, DSC2, DSG2, DSG3, DSP, DTNA, ELAC2, EMD, EYA4, FAH, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GFM1, GJA1, GJA5, GLA, GLB1, GNPTAB, GPD1L, GUSB, HCN4, HRAS, JPH2, JUP, KCNA1, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNK3, KCNQ1, KCNQ2, KCNT1, KRAS, LAMA2, LAMA4, LAMP2, LDB3, LDLR, LIAS, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MLYCD, MRPL3, MRPL44, MRPS22, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYL4, MYOM1, MYOT, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NKX2-6, NNT, NPPA, NRAS, OBSCN, PDHA1, PDLIM3, PHKA1, PITX2, PKP2, PLN, PMM2, PPA2, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA2, RBM20, RIT1, RRAS, RYR2, SCN1A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN9A, SCO2, SDHA, SEMA3A, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLMAP, SNTA1, SOS1, SOS2, SPEG, SPRED1, SURF1, SYNE1, SYNE2, TAZ, TBX20, TBX5, TCAP, TGFB3, TJP1, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TOR1AIP1, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, XK

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.

]]> Cardiomyopathies: gene panel https://genomed.pt/en/cardiomyopathies-gene-panel/ Wed, 12 Aug 2020 02:23:44 +0000 https://genomed.pt/?p=20450
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Internal Medicine, Reumatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

169

Test / Mutation List

A2ML1, AARS2, ABCC9, ACADVL, ACTA1, ACTC1, ACTN2, AGL, AKAP9, ALG10, ALMS1, ALPK3, ANK2, ANKRD1, ATP5E, BAG3, BRAF, CACNA1C, CALM1, CALR3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CHRM2, COA5, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSG3, DSP, DTNA, ELAC2, EMD, EPG5, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FOXRED1, FXN, GAA, GATA4, GATA6, GATAD1, GLA, GLB1, GPD1L, GUSB, HAMP, HCN4, HFE, HFE2, HRAS, IDH2, ILK, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNQ1, KLF10, KRAS, LAMA4, LAMP2, LDB3, LMNA, LRRC10, MAP2K1, MAP2K2, MED12, MIB1, MRPL3, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, MYOM1, MYOZ1, MYOZ2, MYPN, NEBL, NEXN, NF1, NKX2-5, NPPA, NRAS, OBSCN, PDLIM3, PKP2, PLEKHM2, PLN, PPA2, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAB3GAP2, RAF1, RASA1, RBM20, RIT1, RPL3L, RRAS, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SCO2, SDHA, SGCA, SGCB, SGCD, SHOC2, SLC22A5, SLC25A3, SLC25A4, SLC40A1, SNTA1, SOS1, SOS2, SPRED1, SYNE1, SYNE2, TAZ, TCAP, TFR2, TGFB3, TJP1, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TSFM, TTN, TTR, TXNRD2, VCL, XK

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.

]]>