GenoMed https://genomed.pt GenoMed Fri, 09 Feb 2024 23:02:49 +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 GenoMed https://genomed.pt 32 32 17-alpha-hydroxylase deficiency https://genomed.pt/en/17-alpha-hydroxylase-deficiency/ Sat, 16 Sep 2023 22:03:07 +0000 https://genomed.pt/?p=115343
Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

#202110

Gene Number

1

Test / Mutation List

CYP17A1

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.

]]> 21-hydroxylase deficiency: CYP21A2 gene – familial case https://genomed.pt/en/21-hydroxylase-deficiency-cyp21a2-gene-familial-case/ Wed, 12 Aug 2020 03:48:05 +0000 https://genomed.pt/?p=20922
Speciality(ies) / Other Speciality(ies)

Endocrinology

Methodology

Sequencing or MLPA

SNS Code

34577

OMIM

#201910

Gene Number

1

Test / Mutation List

CYP21A2

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.

]]> 21-hydroxylase deficiency: CYP21A2 gene – index case https://genomed.pt/en/21-hydroxylase-deficiency-cyp21a2-gene-index-case/ Wed, 12 Aug 2020 03:47:56 +0000 https://genomed.pt/?p=20918
Speciality(ies) / Other Speciality(ies)

Endocrinology

Pediatrics

Methodology

Sequencing + MLPA

SNS Code

36113

OMIM

#201910

Gene Number

1

Test / Mutation List

CYP21A2

TAT

8 to 10 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.

]]> Abetalipoproteinemia: MTTP gene https://genomed.pt/en/abetalipoproteinemia-mttp-gene/ Wed, 12 Aug 2020 03:46:26 +0000 https://genomed.pt/?p=20878
Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Pediatrics

Methodology

Sequencing

SNS Code

34900

OMIM

#200100

Gene Number

1

Test / Mutation List

MTTP

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.

]]> Achondroplasia level I: FGFR3 gene (p.G380R) https://genomed.pt/en/achondroplasia-level-i-fgfr3-gene-p-g380r/ Wed, 12 Aug 2020 04:41:30 +0000 https://genomed.pt/?p=22254
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

Sequencing

SNS Code

34509

OMIM

#100800

Gene Number

1

Test / Mutation List

FGFR3 (p.G380R)

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.

]]> Achondroplasia level II: FGFR3 gene (p.G380R and p.G375C) https://genomed.pt/en/achondroplasia-level-ii-fgfr3-gene-p-g380r-and-p-g375c/ Wed, 12 Aug 2020 04:41:39 +0000 https://genomed.pt/?p=22258
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

Sequencing

SNS Code

34512

OMIM

#100800

Gene Number

1

Test / Mutation List

FGFR3 (p.G380R e p.G375C)

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.

]]> Acrodysostosis: PRKAR1A gene https://genomed.pt/en/acrodysostosis-prkar1a-gene/ Thu, 24 Sep 2020 00:12:31 +0000 https://genomed.pt/?p=31416
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

Sequencing

SNS Code

34900

OMIM

#101800

Gene Number

1

Test / Mutation List

PRKAR1A

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.

]]> Acrodysostosis: PRKAR1A gene (exon 11) https://genomed.pt/en/acrodysostosis-prkar1a-gene-exon-11/ Wed, 12 Aug 2020 04:41:49 +0000 https://genomed.pt/?p=22262
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

Sequencing

SNS Code

34900

OMIM

#101800

Gene Number

1

Test / Mutation List

PRKAR1A (exão 11)

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.

]]> Acute intermittent porphyria: HMBS gene https://genomed.pt/en/acute-intermittent-porphyria-hmbs-gene/ Wed, 12 Aug 2020 04:00:26 +0000 https://genomed.pt/?p=21198
Speciality(ies) / Other Speciality(ies)

Gastroenterology

Methodology

Sequencing

SNS Code

34900

OMIM

#176000

Gene Number

1

Test / Mutation List

HMBS

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.

]]> Acute Myeloid Leukemia (AML): NGS gene panel https://genomed.pt/en/acute-myeloid-leukemia-aml-ngs-gene-panel/ Wed, 12 Aug 2020 01:48:50 +0000 https://genomed.pt/?p=19738
Speciality(ies) / Other Speciality(ies)

Hematology

Hemato-oncology

Methodology

NGS

SNS Code

34900

OMIM

–

Gene Number

18

Test / Mutation List

ASXL1, BRAF, CEBPA, DNMT3A, EZH2, FLT3, IDH1, IDH2, KIT, KRAS, NPM1, NRAS, RUNX1, SRSF2, TET2, TP53, U2AF1, WT1

TAT

4 to 6 weeks

Sample Type

Peripheral blood in EDTA (3 to 5mL); stable for 48h at room temperature (RT) or 3 days refrigerated
or
Bone Marrow aspirate in EDTA (1 to 3mL); stable for 48h at RT or 3 days refrigerated

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