Other methodologies – GenoMed https://genomed.pt GenoMed Thu, 21 Sep 2023 22:03:36 +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 Other methodologies – GenoMed https://genomed.pt 32 32 Basal cell nevus syndrome (Gorlin-Goltz syndrome): PTCH1 gene https://genomed.pt/en/basal-cell-nevus-syndrome-gorlin-goltz-syndrome-ptch1-gene/ Wed, 12 Aug 2020 03:42:10 +0000 https://genomed.pt/?p=20774
Speciality(ies) / Other Speciality(ies)

Dermatology

Pediatrics

Methodology

Sequencing

SNS Code

36285

OMIM

#109400

Gene Number

1

Test / Mutation List

PTCH1

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.

]]> Carney complex: PRKAR1A gene https://genomed.pt/en/carney-complex-gene-prkar1a/ Thu, 24 Sep 2020 00:12:52 +0000 https://genomed.pt/?p=31424
Speciality(ies) / Other Speciality(ies)

Pediatrics

Cardiology, Dermatology, Endocrinology, Oncology

Methodology

Sequencing

SNS Code

34900

OMIM

#160980

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.

]]> Darier disease: ATP2A2 gene https://genomed.pt/en/darier-disease-atp2a2-gene/ Wed, 12 Aug 2020 03:38:43 +0000 https://genomed.pt/?p=20682
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

Sequencing

SNS Code

34900

OMIM

#124200

Gene Number

1

Test / Mutation List

ATP2A2

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.

]]> Epidermolysis bullosa simplex: KRT5 gene https://genomed.pt/en/epidermolysis-bullosa-simplex-krt5-gene/ Wed, 12 Aug 2020 03:39:10 +0000 https://genomed.pt/?p=20694
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

Sequencing

SNS Code

34900

OMIM

# 601001

Gene Number

1

Test / Mutation List

KRT5

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.

]]> Fabry disease: GLA gene – familial case https://genomed.pt/en/fabry-disease-gla-gene-familial-case-2/ Sat, 15 Aug 2020 00:01:59 +0000 https://genomed.pt/?p=22503
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Dermatology, Internal Medicine, Nephrology, Otorhinolaryngology, Reumatology

Methodology

Sequencing

SNS Code

34726

OMIM

#301500

Gene Number

1

Test / Mutation List

GLA

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.

]]> Fabry disease: GLA gene – index case https://genomed.pt/en/fabry-disease-gla-gene-index-case-2/ Sat, 15 Aug 2020 00:01:51 +0000 https://genomed.pt/?p=22499
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Dermatology, Internal Medicine, Nephrology, Otorhinolaryngology, Reumatology

Methodology

Sequencing

SNS Code

34727

OMIM

#301500

Gene Number

1

Test / Mutation List

GLA

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.

]]> Generalized pustular psoriasis: IL36RN gene https://genomed.pt/en/generalized-pustular-psoriasis-il36rn-gene/ Wed, 12 Aug 2020 03:41:16 +0000 https://genomed.pt/?p=20750
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

Sequencing

SNS Code

34900

OMIM

#614204

Gene Number

1

Test / Mutation List

IL36RN

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.

]]> Hailey-Hayley disease: ATP2C1 gene https://genomed.pt/en/hailey-hayley-disease-atp2c1-gene/ Wed, 12 Aug 2020 03:39:01 +0000 https://genomed.pt/?p=20690
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

Sequencing

SNS Code

34900

OMIM

#169600

Gene Number

1

Test / Mutation List

ATP2C1

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.

]]> Hypertrophic osteoarthropathy: HPGD gene https://genomed.pt/en/hypertrophic-osteoarthropathy-hpgd-gene/ Wed, 12 Aug 2020 03:40:40 +0000 https://genomed.pt/?p=20734
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

Sequencing

SNS Code

34900

OMIM

#259100

Gene Number

1

Test / Mutation List

HPGD

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.

]]> Hypertrophic osteoarthropathy: SLCO2A1 gene https://genomed.pt/en/hypertrophic-osteoarthropathy-slco2a1-gene/ Wed, 12 Aug 2020 03:40:50 +0000 https://genomed.pt/?p=20738
Speciality(ies) / Other Speciality(ies)

Dermatology

Methodology

Sequencing

SNS Code

34900

OMIM

#614441

Gene Number

1

Test / Mutation List

SLCO2A1

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.

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