Other methodologies – GenoMed https://genomed.pt GenoMed Thu, 17 Jun 2021 09:59:33 +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.

]]> Connexin 26: GJB2 gene https://genomed.pt/en/connexin-26-gjb2-gene/ Wed, 12 Aug 2020 04:39:47 +0000 https://genomed.pt/?p=22218
Speciality(ies) / Other Speciality(ies)

Otorhinolaryngology

Methodology

Sequencing

SNS Code

36083

OMIM

#220290

Gene Number

1

Test / Mutation List

GJB2

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.

]]> Connexin 26: GJB2 gene – familial case https://genomed.pt/en/connexin-26-gjb2-gene-familial-case/ Wed, 12 Aug 2020 04:39:57 +0000 https://genomed.pt/?p=22222
Speciality(ies) / Other Speciality(ies)

Otorhinolaryngology

Methodology

Sequencing

SNS Code

36537

OMIM

#220290

Gene Number

1

Test / Mutation List

GJB2

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.

]]> Connexin 30: GJB6 gene https://genomed.pt/en/connexin-30-gjb6-gene/ Wed, 12 Aug 2020 04:40:06 +0000 https://genomed.pt/?p=22226
Speciality(ies) / Other Speciality(ies)

Otorhinolaryngology

Methodology

PCR

SNS Code

36084

OMIM

#612645

Gene Number

1

Test / Mutation List

GJB6

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.

]]> Connexin 30: GJB6 gene – familial case https://genomed.pt/en/connexin-30-gjb6-gene-familial-case/ Wed, 12 Aug 2020 04:40:15 +0000 https://genomed.pt/?p=22230
Speciality(ies) / Other Speciality(ies)

Otorhinolaryngology

Methodology

PCR

SNS Code

36539

OMIM

#612645

Gene Number

1

Test / Mutation List

GJB6

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 – 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.

]]> Maternally inherited diabetes mellitus and deafness (MIDD): MT-TL1 (m.3243A>G), MT-TE (m.14692A>G, m.14709T>C) and MT-TK (8296A>G) genes https://genomed.pt/en/maternally-inherited-diabetes-mellitus-and-deafness-midd-mt-tl1-m-3243ag-mt-te-m-14692ag-m-14709tc-and-mt-tk-8296ag-genes/ Wed, 12 Aug 2020 04:40:24 +0000 https://genomed.pt/?p=22234
Speciality(ies) / Other Speciality(ies)

Otorhinolaryngology

Methodology

Sequencing

SNS Code

34900

OMIM

#520000

Gene Number

–

Test / Mutation List

MT-TL1 (m.3243A>G), MT-TE (m.14692A>G, m.14709T>C), MT-TK (8296A>G)

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.

]]> Mitochondrial nonsyndromic hearing loss and deafness (NSHL): MT-RNR1 gene (m.1555A>G) https://genomed.pt/en/mitochondrial-nonsyndromic-hearing-loss-and-deafness-nshl-mt-rnr1-gene-m-1555ag/ Wed, 12 Aug 2020 04:40:53 +0000 https://genomed.pt/?p=22238
Speciality(ies) / Other Speciality(ies)

Otorhinolaryngology

Methodology

Sequencing

SNS Code

34900

OMIM

*561000

Gene Number
Test / Mutation List

MT-RNR1 (m.1555A>G)

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.

]]> Mitochondrial nonsyndromic hearing loss and deafness: MT-RNR1 (m.961T>G, m.961_962delTinsC(n), m.1095T>C, m.1494C>T, m.1555A>G), MT-TL1 (m.3243A>G), MT-TS1 (m.7443A>G, m.7444G>A, m.7445A>G/C/T, m.7462C>T, m.7472dupC, m.7505T>C, m.7510T>C, m.7511T>C) genes – familial case https://genomed.pt/en/mitochondrial-nonsyndromic-hearing-loss-and-deafness-mt-rnr1-m-961tg-m-961_962deltinscn-m-1095tc-m-1494ct-m-1555ag-mt-tl1-m-3243ag-mt-ts1-m-7443ag-m-7444ga-m-7445ag-c-t-m-7462-2/ Wed, 12 Aug 2020 04:41:11 +0000 https://genomed.pt/?p=22246
Speciality(ies) / Other Speciality(ies)

Otorhinolaryngology

Methodology

Sequencing

SNS Code

34777

OMIM

*561000

Gene Number

–

Test / Mutation List

MT-RNR1 (m.961T>G, m.961_962delTinsC(n), m.1095T>C, m.1494C>T, m.1555A>G), MT-TL1 (m.3243A>G), MT-TS1 (m.7443A>G, m.7444G>A, m.7445A>G/C/T, m.7462C>T, m.7472dupC, m.7505T>C, m.7510T>C, m.7511T>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.

]]>