Nephrology – 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 Nephrology – GenoMed https://genomed.pt 32 32 Adenine phosphoribosyltransferase deficiency: APRT gene https://genomed.pt/en/adenine-phosphoribosyltransferase-deficiency-aprt-gene/ Wed, 12 Aug 2020 04:06:14 +0000 https://genomed.pt/?p=21346
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

Sequencing

SNS Code

34900

OMIM

#614723

Gene Number

1

Test / Mutation List

APRT

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.

]]> 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.

]]> APOL1 genotyping: haplotypes G1 and G2 https://genomed.pt/en/apol1-genotyping-haplotypes-g1-and-g2/ Wed, 12 Aug 2020 04:07:53 +0000 https://genomed.pt/?p=21390
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

Sequencing

SNS Code

34900

OMIM

#612551

Gene Number

1

Test / Mutation List

APOL1

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.

]]> 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 hypocalcemia, with Bartter syndrome: CASR gene https://genomed.pt/en/autosomal-dominant-hypocalcemia-with-bartter-syndrome-casr-gene/ Wed, 12 Aug 2020 04:08:56 +0000 https://genomed.pt/?p=21418
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

Sequencing

SNS Code

34900

OMIM

#601198

Gene Number

1

Test / Mutation List

CASR

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.

]]> Autosomal dominant hypocalcemia: CASR gene https://genomed.pt/en/autosomal-dominant-hypocalcemia-casr-gene/ Wed, 12 Aug 2020 04:09:05 +0000 https://genomed.pt/?p=21422
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

Sequencing

SNS Code

34900

OMIM

#601198

Gene Number

1

Test / Mutation List

CASR

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.

]]> 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.

]]> Autosomal dominant polycystic kidney disease: PKD1 gene https://genomed.pt/en/autosomal-dominant-polycystic-kidney-disease-pkd1-gene/ Wed, 12 Aug 2020 04:06:51 +0000 https://genomed.pt/?p=21362
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

Sequencing

SNS Code

34900

OMIM

#173900

Gene Number

1

Test / Mutation List

PKD1

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 polycystic kidney disease: PKD2 gene https://genomed.pt/en/autosomal-dominant-polycystic-kidney-disease-pkd2-gene/ Wed, 12 Aug 2020 04:07:00 +0000 https://genomed.pt/?p=21366
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

Sequencing

SNS Code

34900

OMIM

#613095

Gene Number

1

Test / Mutation List

PKD2

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 polycystic kidney disease: PKHD1 gene https://genomed.pt/en/autosomal-dominant-polycystic-kidney-disease-pkhd1-gene/ Wed, 12 Aug 2020 04:07:09 +0000 https://genomed.pt/?p=21370
Speciality(ies) / Other Speciality(ies)

Nephrology

Methodology

Sequencing

SNS Code

34900

OMIM

#263200

Gene Number

1

Test / Mutation List

PKHD1

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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