Other methodologies – GenoMed https://genomed.pt GenoMed Sat, 12 Jun 2021 18:10:32 +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 Autoimmune interstitial lung, joint, and kidney disease: COPA gene https://genomed.pt/en/autoimmune-interstitial-lung-joint-and-kidney-disease-copa-gene/ Wed, 12 Aug 2020 03:43:01 +0000 https://genomed.pt/?p=20794
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

Sequencing

SNS Code

34900

OMIM

#616414

Gene Number

1

Test / Mutation List

COPA

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.

]]> Autoimmune lymphoproliferative syndrome (ALPS): FAS (TNFRSF6) gene https://genomed.pt/en/autoimmune-lymphoproliferative-syndrome-alps-fas-tnfrsf6-gene/ Wed, 12 Aug 2020 03:46:08 +0000 https://genomed.pt/?p=20870
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

Sequencing

SNS Code

34900

OMIM

#601859

Gene Number

1

Test / Mutation List

FAS (TNFRSF6)

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 hyper-IgE syndrome: STAT3 gene https://genomed.pt/en/autosomal-dominant-hyper-ige-syndrome-stat3-gene/ Wed, 12 Aug 2020 03:44:58 +0000 https://genomed.pt/?p=20842
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

Sequencing

SNS Code

34900

OMIM

#147060

Gene Number

1

Test / Mutation List

STAT3

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.

]]> Autosomal dominant periodic fever syndrome: TNFRSF1A gene https://genomed.pt/en/autosomal-dominant-periodic-fever-syndrome-tnfrsf1a-gene/ Wed, 12 Aug 2020 03:45:52 +0000 https://genomed.pt/?p=20866
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

Sequencing

SNS Code

34900

OMIM

#142680

Gene Number

1

Test / Mutation List

TNFRSF1A

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.

]]> Blau syndrome: NOD2 gene https://genomed.pt/en/blau-syndrome-nod2-gene/ Wed, 12 Aug 2020 03:44:47 +0000 https://genomed.pt/?p=20838
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

Sequencing

SNS Code

34900

OMIM

#186580

Gene Number

1

Test / Mutation List

NOD2

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.

]]> CAPS (cryopyrin-associated periodic syndrome): NLRP3 gene https://genomed.pt/en/caps-cryopyrin-associated-periodic-syndrome-nlrp3-gene/ Wed, 12 Aug 2020 03:42:19 +0000 https://genomed.pt/?p=20778
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

Sequencing

SNS Code

34900

OMIM

#120100

Gene Number

1

Test / Mutation List

NLRP3

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.

]]> Familial congenital neutropenia: ELANE (ELA2) gene https://genomed.pt/en/familial-congenital-neutropenia-elane-ela2-gene/ Wed, 12 Aug 2020 03:44:28 +0000 https://genomed.pt/?p=20830
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

Sequencing

SNS Code

34900

OMIM

#202700

Gene Number

1

Test / Mutation List

ELANE (ELA2)

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.

]]> Familial mediterranean fever: MEFV gene https://genomed.pt/en/familial-mediterranean-fever-mefv-gene/ Wed, 12 Aug 2020 03:43:19 +0000 https://genomed.pt/?p=20802
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

Sequencing

SNS Code

34900

OMIM

*608107

Gene Number

1

Test / Mutation List

MEFV

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.

]]> Familial mediterranean fever: MEFV gene (exons 2, 3 and 10) https://genomed.pt/en/familial-mediterranean-fever-mefv-gene-exons-2-3-and-10/ Wed, 12 Aug 2020 03:43:28 +0000 https://genomed.pt/?p=20806
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

Sequencing

SNS Code

34900

OMIM

*608107

Gene Number

1

Test / Mutation List

MEFV (exons 2, 3 and 10)

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.

]]> Hiper-IgE syndrome: DOCK8 gene https://genomed.pt/en/hiper-ige-syndrome-dock8-gene/ Wed, 12 Aug 2020 03:45:07 +0000 https://genomed.pt/?p=20846
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

Sequencing

SNS Code

34900

OMIM

#243700

Gene Number

1

Test / Mutation List

DOCK8

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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