Pediatrics – GenoMed https://genomed.pt GenoMed Tue, 02 May 2023 22:09:36 +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 Pediatrics – GenoMed https://genomed.pt 32 32 Achondroplasia level I: FGFR3 gene (p.G380R) https://genomed.pt/en/achondroplasia-level-i-fgfr3-gene-p-g380r/ Wed, 12 Aug 2020 04:41:30 +0000 https://genomed.pt/?p=22254
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

Sequencing

SNS Code

34509

OMIM

#100800

Gene Number

1

Test / Mutation List

FGFR3 (p.G380R)

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.

]]> Achondroplasia level II: FGFR3 gene (p.G380R and p.G375C) https://genomed.pt/en/achondroplasia-level-ii-fgfr3-gene-p-g380r-and-p-g375c/ Wed, 12 Aug 2020 04:41:39 +0000 https://genomed.pt/?p=22258
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

Sequencing

SNS Code

34512

OMIM

#100800

Gene Number

1

Test / Mutation List

FGFR3 (p.G380R e p.G375C)

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.

]]> Acrodysostosis: PRKAR1A gene https://genomed.pt/en/acrodysostosis-prkar1a-gene/ Thu, 24 Sep 2020 00:12:31 +0000 https://genomed.pt/?p=31416
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

Sequencing

SNS Code

34900

OMIM

#101800

Gene Number

1

Test / Mutation List

PRKAR1A

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.

]]> Acrodysostosis: PRKAR1A gene (exon 11) https://genomed.pt/en/acrodysostosis-prkar1a-gene-exon-11/ Wed, 12 Aug 2020 04:41:49 +0000 https://genomed.pt/?p=22262
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

Sequencing

SNS Code

34900

OMIM

#101800

Gene Number

1

Test / Mutation List

PRKAR1A (exão 11)

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.

]]> Alagille syndrome: JAG1 gene https://genomed.pt/en/alagille-syndrome-jag1-gene/ Wed, 12 Aug 2020 04:44:29 +0000 https://genomed.pt/?p=22334
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

Sequencing

SNS Code

34900

OMIM

#118450

Gene Number

1

Test / Mutation List

JAG1

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.

]]> Alström syndrome: ALMS1 gene https://genomed.pt/en/alstrom-syndrome-alms1-gene/ Wed, 12 Aug 2020 03:11:45 +0000 https://genomed.pt/?p=20638
Speciality(ies) / Other Speciality(ies)

Otorhinolaryngology

Ophthalmology, Endocrinology, Pediatrics

Methodology

Sequencing

SNS Code

34900

OMIM

#203800

Gene Number

1

Test / Mutation List

ALMS1

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.

]]> Apert syndrome: FGFR2 gene https://genomed.pt/en/apert-syndrome-fgfr2-gene/ Wed, 12 Aug 2020 04:44:38 +0000 https://genomed.pt/?p=22338
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

Sequencing

SNS Code

34900

OMIM

#101200

Gene Number

1

Test / Mutation List

FGFR2

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.

]]> 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.

]]> Bardet-Biedl syndrome: TMEM67 gene https://genomed.pt/en/bardet-biedl-syndrome-tmem67-gene/ Wed, 12 Aug 2020 04:44:48 +0000 https://genomed.pt/?p=22342
Speciality(ies) / Other Speciality(ies)

Pediatrics

Methodology

Sequencing

SNS Code

34900

OMIM

#615991

Gene Number

1

Test / Mutation List

TMEM67

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.

]]>