NGS – GenoMed https://genomed.pt GenoMed Tue, 02 May 2023 22:11:46 +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 Cutis laxa: gene panel https://genomed.pt/en/cutis-laxa-gene-panel/ Wed, 12 Aug 2020 02:26:44 +0000 https://genomed.pt/?p=20530
Speciality(ies) / Other Speciality(ies)

Dermatology

Pediatrics Cardiology, Internal Medicine, Reumatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

15

Test / Mutation List

ALDH18A1, ATP6V0A2, ATP7A, C1R, COL11A1, EFEMP2, ELN, FBLN5, FLNA, GORAB, LTBP4, PLAC8, PTDSS1, PYCR1, RIN2

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.

]]> Dyskeratosis congenita: gene panel https://genomed.pt/en/dyskeratosis-congenita-gene-panel/ Wed, 27 Jul 2022 22:03:07 +0000 https://genomed.pt/?p=114350
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM
Gene Number

11

Test / Mutation List

CTC1, DKC1, NOP10, NHP2, PARN, RTEL1, TERC, TERT, TINF2, USB1, WRAP53

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.

]]> Ectodermal dysplasia: gene panel https://genomed.pt/en/ectodermal-dysplasia-gene-panel/ Wed, 12 Aug 2020 03:38:34 +0000 https://genomed.pt/?p=20678
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

30

Test / Mutation List

ABCC9, BCS1L, CDH3, DLX3, DSP, EDA, EDA2R, EDAR, EDARADD, ERCC2, EVC, EVC2, GJB2, GJB6, HOXC13, IKBKG, IFT122, JUP, KCTD1, KRT74, KRT85, MSX1, NFKBIA, PORCN, RMRP, SHOC2, TP63, TRAF6, WDR35, WNT10A

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.

]]> Epidermolysis bullosa (extended panel): gene panel https://genomed.pt/en/epidermolysis-bullosa-extended-panel-gene-panel/ Wed, 12 Aug 2020 03:39:18 +0000 https://genomed.pt/?p=20698
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

31

Test / Mutation List

ATP2C1, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSG4, DSP, DST, EXPH5, FERMT1, GRIP1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, SERPINB8, TGM5

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.

]]> Epidermolysis bullosa: gene panel https://genomed.pt/en/epidermolysis-bullosa-gene-panel/ Wed, 12 Aug 2020 03:39:27 +0000 https://genomed.pt/?p=20702
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

14

Test / Mutation List

COL17A1, COL7A1, DSP, EXPH5, ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5

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.

]]> Galli-Galli disease: gene panel https://genomed.pt/en/galli-galli-disease-gene-panel/ Wed, 12 Aug 2020 03:38:52 +0000 https://genomed.pt/?p=20686
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

7

Test / Mutation List

ADAM10, ADAR, KRT14, KRT5, POFUT1, POGLUT1, PSENEN

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.

]]> Pachyonychia congenita: gene panel https://genomed.pt/en/pachyonychia-congenita-gene-panel/ Wed, 12 Aug 2020 03:40:59 +0000 https://genomed.pt/?p=20742
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

8

Test / Mutation List

AAGAB, GJB6, KRT16, KRT17, KRT6A, KRT6B, KRT6C, TRPV3

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.

]]> Palmoplantar keratoderma: gene panel https://genomed.pt/en/palmoplantar-keratoderma-gene-panel/ Wed, 12 Aug 2020 03:41:34 +0000 https://genomed.pt/?p=20758
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

25

Test / Mutation List

AAGAB, AQP5, CTSC, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, KRT1, KRT6A, KRT6B, KRT6C, KRT9, KRT14, KRT16, KRT17, LOR, MBTPS2, PKP1, SERPINB7, SLURP1, TRPV3, WNT10A

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.

]]> Reticulate pigmentary dermatoses: gene panel https://genomed.pt/en/reticulate-pigmentary-dermatoses-gene-panel/ Wed, 12 Aug 2020 03:38:26 +0000 https://genomed.pt/?p=20674
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

17

Test / Mutation List

ABCB6, ADAM10, ADAR, CTC1, DKC1, KRT14, KRT5, NHP2, NOP10, POFUT1, POGLUT1, POLA1, SASH1, TERC, TERT, TINF2, WRAP53

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.

]]> Rothmund-Thomson syndrome: gene panel https://genomed.pt/en/rothmund-thomson-syndrome-gene-panel/ Wed, 12 Aug 2020 03:42:01 +0000 https://genomed.pt/?p=20770
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

46

Test / Mutation List

ATM, BLM, BRCA2, BRIP1, CTC1, DDB2, DKC1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FAM111B, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FERMT1, MAD2L2, NHP2, NOP10, PALB2, PARN, POLH, RAD51, RAD51C, RECQL4, RFWD3, RTEL1, SLX4, TERC, TERT, TINF2, UBE2T, USB1, WRAP53, WRN, XPA, XPC, XRCC2

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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