NGS – GenoMed https://genomed.pt GenoMed Tue, 28 May 2024 22:02:26 +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 Alport syndrome: COL4A3, COL4A4, COL4A5, COL4A6 genes https://genomed.pt/en/alport-syndrome-col4a3-col4a4-col4a5-col4a6-genes/ Wed, 12 Aug 2020 04:09:39 +0000 https://genomed.pt/?p=21438
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

4

Test / Mutation List

COL4A3, COL4A4, COL4A5, COL4A6

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.

]]> Autosomal dominant interstitial nephritis: HNF1B, REN, SEC61A1, UMOD genes https://genomed.pt/en/autosomal-dominant-interstitial-nephritis-hnf1b-ren-sec61a1-umod-genes/ Wed, 12 Aug 2020 04:09:14 +0000 https://genomed.pt/?p=21426
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

4

Test / Mutation List

HNF1B, REN, SEC61A1, UMOD

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.

]]> Bartter and Gitelman syndromes: gene panel https://genomed.pt/en/bartter-and-gitelman-syndromes-gene-panel/ Wed, 12 Aug 2020 04:09:48 +0000 https://genomed.pt/?p=21442
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

6

Test / Mutation List

BSND, CLCNKA, CLCNKB, KCNJ1, SLC12A1, SLC12A3

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.

]]> Cystinuria: SLC3A1, SLC7A9 genes https://genomed.pt/en/cystinuria-slc3a1-slc7a9-genes/ Wed, 12 Aug 2020 04:06:05 +0000 https://genomed.pt/?p=21342
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

2

Test / Mutation List

SLC3A1, SLC7A9

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.

]]> Familial renal glucosuria: SLC2A2, SLC5A2 gene https://genomed.pt/en/familial-renal-glucosuria-slc2a2-slc5a2-gene/ Wed, 12 Aug 2020 04:08:11 +0000 https://genomed.pt/?p=21398
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

2

Test / Mutation List

SLC2A2, SLC5A2

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 renal tumors (basic panel): gene panel https://genomed.pt/en/hereditary-renal-tumors-basic-panel-gene-panel/ Wed, 12 Aug 2020 03:11:05 +0000 https://genomed.pt/?p=20634
Speciality(ies) / Other Speciality(ies)

Oncology

Nephrology, Urology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

10

Test / Mutation List

AKT1, BAP1, FLNC, FH, MET, PTEN, PIK3CA, STK11, SDHB, VHL

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 renal tumors (extended panel): gene panel https://genomed.pt/en/hereditary-renal-tumors-extended-panel-gene-panel/ Wed, 12 Aug 2020 03:10:56 +0000 https://genomed.pt/?p=20630
Speciality(ies) / Other Speciality(ies)

Oncology

Nephrology, Urology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

25

Test / Mutation List

BAP1, CDC73, CHEK2, DICER1, DIS3L2, EPCAM, FH, FLCN, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN, SDHA, SDHB, SDHC, SDHD, SMARCB1, TP53, TSC1, TSC2, VHL, WT1

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.

]]> Hyperoxaluria, primary: AGXT, GRHPR, HOGA1 genes https://genomed.pt/en/hyperoxaluria-primary-agxt-grhpr-hoga1-genes/ Sat, 22 Jan 2022 23:06:18 +0000 https://genomed.pt/?p=113662
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

3

Test / Mutation List

AGXT, GRHPR, HOGA1

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.

]]> Liddle syndrome: SCNN1B, SCNN1G genes https://genomed.pt/en/liddle-syndrome-scnn1b-scnn1g-genes/ Wed, 12 Aug 2020 04:10:33 +0000 https://genomed.pt/?p=21462
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

2

Test / Mutation List

SCNN1B, SCNN1G

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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