Other methodologies – GenoMed https://genomed.pt GenoMed Mon, 07 Feb 2022 23:05:15 +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 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.

]]> Early-onset glaucoma: MYOC gene https://genomed.pt/en/early-onset-glaucoma-myoc-gene/ Wed, 12 Aug 2020 04:29:56 +0000 https://genomed.pt/?p=21970
Speciality(ies) / Other Speciality(ies)

Ophthalmology

Methodology

Sequencing

SNS Code

34900

OMIM

#137750

Gene Number

1

Test / Mutation List

MYOC

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.

]]> Gyrate atrophy of choroid and retina with or without ornithinemia: OAT gene https://genomed.pt/en/gyrate-atrophy-of-choroid-and-retina-with-or-without-ornithinemia-oat-gene/ Wed, 12 Aug 2020 04:29:20 +0000 https://genomed.pt/?p=21954
Speciality(ies) / Other Speciality(ies)

Ophthalmology

Methodology

Sequencing

SNS Code

34900

OMIM

#258870

Gene Number

1

Test / Mutation List

OAT

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.

]]> LHON syndrome – Leber hereditary optic atrophy: MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A), MT-ND6 (m.14484T>C) genes – familial case https://genomed.pt/en/lhon-syndrome-leber-hereditary-optic-atrophy-mt-nd1-m-3460ga-mt-nd4-m-11778ga-mt-nd6-m-14484tc-genes-familial-case/ Wed, 12 Aug 2020 04:31:07 +0000 https://genomed.pt/?p=21998
Speciality(ies) / Other Speciality(ies)

Ophthalmology

Methodology

Sequencing

SNS Code

34713

OMIM

#535000

Gene Number

3

Test / Mutation List

MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A), MT-ND6 (m.14484T>C)

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.

]]> LHON syndrome – Leber hereditary optic atrophy: MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A), MT-ND6 (m.14484T>C) genes – index case https://genomed.pt/en/lhon-syndrome-leber-hereditary-optic-atrophy-mt-nd1-m-3460ga-mt-nd4-m-11778ga-mt-nd6-m-14484tc-genes-index-case/ Wed, 12 Aug 2020 04:30:58 +0000 https://genomed.pt/?p=21994
Speciality(ies) / Other Speciality(ies)

Ophthalmology

Methodology

Sequencing

SNS Code

34712

OMIM

#535000

Gene Number

3

Test / Mutation List

MT-ND1 (m.3460G>A), MT-ND4 (m.11778G>A), MT-ND6 (m.14484T>C)

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.

]]> Premature retinopathy (Norrie disease): NDP gene – familial case https://genomed.pt/en/premature-retinopathy-norrie-disease-ndp-gene-familial-case/ Wed, 12 Aug 2020 04:30:24 +0000 https://genomed.pt/?p=21982
Speciality(ies) / Other Speciality(ies)

Ophthalmology

Methodology

Sequencing

SNS Code

34321

OMIM

#310600

Gene Number

1

Test / Mutation List

NDP

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.

]]> Premature retinopathy (Norrie disease): NDP gene – index case https://genomed.pt/en/premature-retinopathy-norrie-disease-ndp-gene-index-case/ Wed, 12 Aug 2020 04:30:15 +0000 https://genomed.pt/?p=21978
Speciality(ies) / Other Speciality(ies)

Ophthalmology

Methodology

Sequencing

SNS Code

34320

OMIM

#310600

Gene Number

1

Test / Mutation List

NDP

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.

]]> Primary congenital glaucoma: CYP1B1 gene https://genomed.pt/en/primary-congenital-glaucoma-cyp1b1-gene/ Wed, 12 Aug 2020 04:29:47 +0000 https://genomed.pt/?p=21966
Speciality(ies) / Other Speciality(ies)

Ophthalmology

Methodology

Sequencing

SNS Code

34900

OMIM

#231300

Gene Number

1

Test / Mutation List

CYP1B1

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.

]]> Retinitis pigmentosa: RPE65 gene https://genomed.pt/en/retinitis-pigmentosa-rpe65-gene/ Wed, 12 Aug 2020 04:30:33 +0000 https://genomed.pt/?p=21986
Speciality(ies) / Other Speciality(ies)

Ophthalmology

Methodology

Sequencing

SNS Code

34900

OMIM

#613794

Gene Number

1

Test / Mutation List

RPE65

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.

]]> Stargardt disease: ABCA4 gene https://genomed.pt/en/stargardt-disease-abca4-gene/ Wed, 12 Aug 2020 04:29:38 +0000 https://genomed.pt/?p=21962
Speciality(ies) / Other Speciality(ies)

Ophthalmology

Methodology

Sequencing

SNS Code

34900

OMIM

#248200

Gene Number

1

Test / Mutation List

ABCA4

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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