NGS – GenoMed https://genomed.pt GenoMed Tue, 02 May 2023 22:10:27 +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.

]]> Bardet-Biedl syndrome: gene panel https://genomed.pt/en/bardet-biedl-syndrome-gene-panel/ Wed, 12 Aug 2020 04:44:57 +0000 https://genomed.pt/?p=22346
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

20

Test / Mutation List

ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, IFT27, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP

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.

]]> Clinical exome (single) https://genomed.pt/en/clinical-exome-single/ Wed, 12 Aug 2020 03:18:42 +0000 https://genomed.pt/?p=20662
Speciality(ies) / Other Speciality(ies)

Medical Genetics

Pediatrics, Internal Medicine

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

–

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.

]]> Clinical exome (trio) https://genomed.pt/en/clinical-exome-trio/ Wed, 12 Aug 2020 03:18:51 +0000 https://genomed.pt/?p=20666
Speciality(ies) / Other Speciality(ies)

Medical Genetics

Pediatrics, Internal Medicine

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

–

Test / Mutation List

–

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.

]]> Cornelia de Lange syndrome: gene panel https://genomed.pt/en/cornelia-de-lange-syndrome-gene-panel/ Wed, 12 Aug 2020 04:45:15 +0000 https://genomed.pt/?p=22354
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

5

Test / Mutation List

HDAC8, NIPBL, RAD21, SMC1A, SMC3

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.

]]> Craniosynostosis: gene panel https://genomed.pt/en/craniosynostosis-gene-panel/ Wed, 12 Aug 2020 04:42:15 +0000 https://genomed.pt/?p=22274
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

42

Test / Mutation List

ALPL, ALX3, ALX4, BMP4, EDN3, EDNRB, EFNB1, ERF, ESCO2, FGFR1, FGFR2, FGFR3, FLNB, FREM1, GDF5, GLI3, IFT122, IFT140, IL11RA, IMPAD1, IRX5, MASP1, MEGF8, MITF, MSX2, NOG, PAX3, POR, RAB23, RECQL4, RET, SCARF2, SKI, SOX10, TCF12, TGFBR1, TGFBR2, TMCO1, TTR, TWIST1, WDR19, WDR35

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.

]]> Distal arthrogryposis: gene panel https://genomed.pt/en/distal-arthrogryposis-gene-panel/ Wed, 12 Aug 2020 04:41:57 +0000 https://genomed.pt/?p=22266
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

9

Test / Mutation List

ECEL1, FBN2, MYBPC1, MYH3, MYH8, PIEZO2, TPM2, TNNI2, TNNT3

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.

]]> Hemifacial microsomia https://genomed.pt/en/hemifacial-microsomia/ Wed, 12 Aug 2020 04:43:27 +0000 https://genomed.pt/?p=22306
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

13

Test / Mutation List

CHD7, DHODH, EFTUD2, EYA1, GNAI3, PLCB4, POLR1C, POLR1D, SALL1, SF3B4, SIX1, SIX5, TCOF1

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.

]]> Hemophagocytic syndrome: gene panel https://genomed.pt/en/hemophagocytic-syndrome-gene-panel/ Wed, 12 Aug 2020 02:46:28 +0000 https://genomed.pt/?p=20622
Speciality(ies) / Other Speciality(ies)

Hematology

Pediatrics, Immunoallergology, Immunodeficiencies

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

7

Test / Mutation List

DCLRE1C, PRF1, STX11, STXBP2, RAG1, RAG2, UNC13D

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.

]]> Hemophagocytic syndrome: STXBP2, STX11, PRF1, UNC13D genes https://genomed.pt/en/hemophagocytic-syndrome-stxbp2-stx11-prf1-unc13d-genes/ Wed, 12 Aug 2020 02:46:20 +0000 https://genomed.pt/?p=20618
Speciality(ies) / Other Speciality(ies)

Hematology

Pediatrics, Immunoallergology, Immunodeficiencies

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

4

Test / Mutation List

STXBP2, STX11, PRF1, UNC13D

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.

]]>