Other methodologies – GenoMed https://genomed.pt GenoMed Mon, 21 Jun 2021 14:12:03 +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 Cystic fibrosis (mucoviscidosis): CFTR gene – familial case https://genomed.pt/en/cystic-fibrosis-mucoviscidosis-cftr-gene-familial-case/ Wed, 12 Aug 2020 04:49:00 +0000 https://genomed.pt/?p=22442
Speciality(ies) / Other Speciality(ies)

Pneumology

Methodology

Fragment analysis

SNS Code

34341

OMIM

#219700

Gene Number

1

Test / Mutation List

CFTR

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.

]]> Cystic fibrosis (mucoviscidosis): CFTR gene – index case, level 1 https://genomed.pt/en/cystic-fibrosis-mucoviscidosis-cftr-gene-index-case-level-1/ Wed, 12 Aug 2020 04:49:10 +0000 https://genomed.pt/?p=22446
Speciality(ies) / Other Speciality(ies)

Pneumology

Methodology

Fragment analysis

SNS Code

34335

OMIM

#219700

Gene Number

1

Test / Mutation List

CFTR

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.

]]> Cystic fibrosis: CFTR gene https://genomed.pt/en/cystic-fibrosis-cftr-gene/ Wed, 12 Aug 2020 04:49:18 +0000 https://genomed.pt/?p=22450
Speciality(ies) / Other Speciality(ies)

Pneumology

Methodology

Sequencing

SNS Code

36180

OMIM

#219700

Gene Number

1

Test / Mutation List

CFTR

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.

]]> Pulmonary hypertension: BMPR2 gene https://genomed.pt/en/pulmonary-hypertension-bmpr2-gene/ Wed, 12 Aug 2020 04:49:27 +0000 https://genomed.pt/?p=22454
Speciality(ies) / Other Speciality(ies)

Pneumology

Methodology

Sequencing

SNS Code

34900

OMIM

#178600

Gene Number

1

Test / Mutation List

BMPR2

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.

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