NGS – 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 NGS – GenoMed https://genomed.pt 32 32 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.

]]> 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.

]]> Emberger syndrome: GATA2 gene https://genomed.pt/en/emberger-syndrome-gata2-gene/ Thu, 21 Apr 2022 22:03:22 +0000 https://genomed.pt/?p=114208
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

#614038

Gene Number

1

Test / Mutation List

GATA2

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.

]]> Inflammatory bowel disease : gene panel https://genomed.pt/en/inflammatory-bowel-disease-gene-panel/ Wed, 12 Aug 2020 02:30:02 +0000 https://genomed.pt/?p=20534
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Pediatrics, Immunodeficiencies, Reumatology, Gastroenterology, Internal Medicine

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

55

Test / Mutation List

ADA, ADAM17, AICDA, BTK, CD3G, CD40LG, CTLA4, CYBA, CYBB, DCLRE1C, DKC1, DOCK8, EPCAM, FOXP3, G6PC3, ICOS, IL10, IL10RA, IL10RB, IL21, IL2RA, IL2RG, ITGB2, LIG4, LRBA, MALT1, MEFV, MVK, MYO5B, NCF1, NCF2, NCF4, NEUROG3, NFAT5, NLRC4, NOD2, PIK3CD, PIK3R1, PLCG2, RAG1, RAG2, RTEL1, SH2D1A, SI, SKIV2L, SLC37A4, STAT1, STAT3, STIM1, STXBP2, TTC37, TTC7A, 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.

]]> Recurrent fevers: gene panel https://genomed.pt/en/recurrent-fevers-gene-panel/ Wed, 12 Aug 2020 02:30:36 +0000 https://genomed.pt/?p=20538
Speciality(ies) / Other Speciality(ies)

Immune System Diseases

Pediatrics, Immunodeficiencies, Reumatology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

35

Test / Mutation List

ADAR, AP1S3, ASAH1, CARD14, DDX58, ELANE, HAX1, IFIH1, IL10RA, IL10RB, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PLCG2, PSMB8, PSTPIP1, RBCK1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC29A3, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF1A, TREX1

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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