Other methodologies – GenoMed https://genomed.pt GenoMed Mon, 18 Mar 2024 23:02:17 +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 Other methodologies – GenoMed https://genomed.pt 32 32 Dihydropyrimidine dehydrogenase deficiency: DPYD gene https://genomed.pt/en/dihydropyrimidine-dehydrogenase-deficiency-dpyd-gene/ Wed, 12 Aug 2020 02:40:15 +0000 https://genomed.pt/?p=20610
Speciality(ies) / Other Speciality(ies)

Pharmacogenetics

Oncology

Methodology

Sequencing

SNS Code

34900

OMIM

#274270

Gene Number

1

Test / Mutation List

DPYD

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.

]]> Dihydropyrimidine dehydrogenase deficiency: DPYD gene (c.1236G>A, c.1679T>G, c.1905+1G>A and c.2846A>T) https://genomed.pt/en/dihydropyrimidine-dehydrogenase-deficiency-dpyd-gene-c-1236ga-c-1679tg-c-19051ga-and-c-2846at/ Wed, 12 Aug 2020 02:40:24 +0000 https://genomed.pt/?p=20614
Speciality(ies) / Other Speciality(ies)

Pharmacogenetics

Oncology

Methodology

Sequencing

SNS Code

34900

OMIM

#274270

Gene Number

1

Test / Mutation List

DPYD (c.1236G>A, c.1679T>G, c.1905+1G>A and c.2846A>T)

TAT

1 to 2 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.

]]> P450 genotyping: CYP1A2 gene (*1C, *1F) https://genomed.pt/en/p450-genotyping-cyp1a2-gene-1c-1f/ Wed, 12 Aug 2020 03:56:07 +0000 https://genomed.pt/?p=21082
Speciality(ies) / Other Speciality(ies)

Pharmacogenetics

Methodology

Sequencing

SNS Code

34900

OMIM

124060

Gene Number

1

Test / Mutation List

CYP1A2 (*1C, *1F)

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.

]]> P450 genotyping: CYP2C19 gene (*2) https://genomed.pt/en/p450-genotyping-cyp2c19-gene-3/ Wed, 12 Aug 2020 03:56:16 +0000 https://genomed.pt/?p=21086
Speciality(ies) / Other Speciality(ies)

Pharmacogenetics

Methodology

RFLP-PCR

SNS Code

34900

OMIM

#609535

Gene Number

1

Test / Mutation List

CYP2C19 (*2)

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.

]]> P450 genotyping: CYP2C9 gene (*2, *3) https://genomed.pt/en/p450-genotyping-cyp2c9-gene-2-3/ Wed, 12 Aug 2020 03:56:24 +0000 https://genomed.pt/?p=21090
Speciality(ies) / Other Speciality(ies)

Pharmacogenetics

Methodology

RFLP-PCR

SNS Code

34900

OMIM

*601130

Gene Number

1

Test / Mutation List

CYP2C9 (*2, *3)

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.

]]> P450 genotyping: CYP2D6 gene (*2N, *3, *4, *5, *6, *9, *10, *41) https://genomed.pt/en/p450-genotyping-cyp2d6-gene-3-4-5-6-9-10-41/ Wed, 12 Aug 2020 03:56:33 +0000 https://genomed.pt/?p=21094
Speciality(ies) / Other Speciality(ies)

Pharmacogenetics

Methodology

LR-PCR, Sequencing

SNS Code

34900

OMIM

#608902

Gene Number

1

Test / Mutation List

CYP2D6 (*2N, *3, *4, *5, *6, *9, *10, *41)

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.

]]> P450 genotyping: CYP3A4 gene (*1B) https://genomed.pt/en/p450-genotyping-cyp3a4-gene-1b/ Wed, 12 Aug 2020 03:56:42 +0000 https://genomed.pt/?p=21098
Speciality(ies) / Other Speciality(ies)

Pharmacogenetics

Methodology

Sequencing

SNS Code

34900

OMIM

*124010

Gene Number

1

Test / Mutation List

CYP3A4 (*1B)

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.

]]> Pseudocholinesterase deficiency: BCHE gene https://genomed.pt/en/pseudocholinesterase-deficiency-bche-gene/ Wed, 12 Aug 2020 03:55:58 +0000 https://genomed.pt/?p=21078
Speciality(ies) / Other Speciality(ies)

Pharmacogenetics

Methodology

Sequencing

SNS Code

34900

OMIM

#617936

Gene Number

1

Test / Mutation List

BCHE

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.

]]> Warfarin sensitivity/resistance: CYP2C9 (*2, *3) and VKORC1 (c.-1639G>A) genes https://genomed.pt/en/warfarin-sensitivity-resistance-cyp2c9-2-3-and-vkorc1-c-1639ga-genes/ Fri, 29 Jan 2021 23:32:14 +0000 https://genomed.pt/?p=45987
Speciality(ies) / Other Speciality(ies)

Pharmacogenetics

Methodology

RFLP-PCR

SNS Code

34900

OMIM

#122700

Gene Number

2

Test / Mutation List

CYP2C9 (*2, *3), VKORC1 (c.-1639G>A)

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.

]]> Warfarin sensitivity/resistance: CYP2C9 gene (*2, *3) https://genomed.pt/en/warfarin-sensitivity-resistance-cyp2c9-gene-2-3/ Wed, 12 Aug 2020 03:57:00 +0000 https://genomed.pt/?p=21106
Speciality(ies) / Other Speciality(ies)

Pharmacogenetics

Methodology

RFLP-PCR

SNS Code

36269

OMIM

#122700

Gene Number

1

Test / Mutation List

CYP2C9 (*2, *3)

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.

]]>