Immune System Diseases – GenoMed https://genomed.pt GenoMed Fri, 07 Feb 2025 23:02:43 +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 Immune System Diseases – 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.

]]> Autoimmune lymphoproliferative syndrome (ALPS): gene panel https://genomed.pt/en/autoimmune-lymphoproliferative-syndrome-alps-gene-panel/ Wed, 12 Aug 2020 02:32:19 +0000 https://genomed.pt/?p=20542
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Pediatrics, Immunodeficiencies, Reumatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

19

Test / Mutation List

ADA2, AICDA, CASP10, CASP8, CD40LG, CTLA4, FADD, FAS, FASLG, ITK, KRAS, LRBA, MAGT1, NRAS, PRKCD, RASGRP1, SH2D1A, STAT3, WAS

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.

]]> Autoinflammatory diseases: gene panel https://genomed.pt/en/autoinflammatory-diseases-gene-panel/ Wed, 12 Aug 2020 03:43:10 +0000 https://genomed.pt/?p=20798
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

105

Test / Mutation List

ADA, ADA2, ADAM17, ADAR, AICDA, AP1S3, AP3B1, ASAH1, BLOC1S6, BTK, CARD14, CASP10, CASP8, CD27, CD3G, CD40LG, CTLA4, CYBA, CYBB, DCLRE1C, DDX58, DKC1, DOCK8, ELANE, EPCAM, FADD, FARSA, FAS, FASLG, FOXP3, G6PC3, HAX1, ICOS, IFIH1, IL10, IL10RA, IL10RB, IL1RN, IL21, IL2RA, IL2RG, IL36RN, ITGB2, ITK, KRAS, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MEFV, MVK, MYO5B, NCF1, NCF2, NCF4, NEUROG3, NFAT5, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NRAS, OTULIN, PIK3CD, PIK3R1, PLCG2, PRF1, PRKCD, PSMB8, PSTPIP1, RAB27A, RAG1, RAG2, RASGRP1, RBCK1, RNASEH2A, RNASEH2B, RNASEH2C, RTEL1, SAMHD1, SH2D1A, SI, SKIV2L, SLC29A3, SLC37A4, SLC7A7, STAT1, STAT3, STIM1, STX11, STXBP2, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF1A, TREX1, TTC37, TTC7A, UNC13D, WAS, XIAP, ZAP70

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.

]]> Autoinflammatory syndrome, familial, Behcet-like 1: TNFAIP3 gene https://genomed.pt/en/autoinflammatory-syndrome-familial-behcet-like-1-tnfaip3-gene/ Wed, 20 Apr 2022 22:03:07 +0000 https://genomed.pt/?p=114198
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

#616744

Gene Number

1

Test / Mutation List

TNFAIP3

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 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.

]]> Complement disorders and hemolytic uremic syndrome: gene panel https://genomed.pt/en/complement-disorders-and-hemolytic-uremic-syndrome-gene-panel/ Wed, 12 Aug 2020 03:46:17 +0000 https://genomed.pt/?p=20874
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Reumatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

12

Test / Mutation List

ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR3, CFHR4, CFHR5, CFI, DGKE, MMACHC

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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