Endocrinology – GenoMed https://genomed.pt GenoMed Thu, 28 Sep 2023 22:02:50 +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 Endocrinology – GenoMed https://genomed.pt 32 32 21-hydroxylase deficiency: CYP21A2 gene – familial case https://genomed.pt/en/21-hydroxylase-deficiency-cyp21a2-gene-familial-case/ Wed, 12 Aug 2020 03:48:05 +0000 https://genomed.pt/?p=20922
Speciality(ies) / Other Speciality(ies)

Endocrinology

Methodology

Sequencing or MLPA

SNS Code

34577

OMIM

#201910

Gene Number

1

Test / Mutation List

CYP21A2

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.

]]> 21-hydroxylase deficiency: CYP21A2 gene – index case https://genomed.pt/en/21-hydroxylase-deficiency-cyp21a2-gene-index-case/ Wed, 12 Aug 2020 03:47:56 +0000 https://genomed.pt/?p=20918
Speciality(ies) / Other Speciality(ies)

Endocrinology

Pediatrics

Methodology

Sequencing + MLPA

SNS Code

36113

OMIM

#201910

Gene Number

1

Test / Mutation List

CYP21A2

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.

]]> Albright’s hereditary osteodystrophy (Pseudohypoparathyroidism 1a): GNAS gene (sequencing + deletion/duplication analysis + methylation) https://genomed.pt/en/albrights-hereditary-osteodystrophy-gnas-gene-sequencing-deletion-duplication-analysis-methylation/ Wed, 12 Aug 2020 03:53:58 +0000 https://genomed.pt/?p=21034
Speciality(ies) / Other Speciality(ies)

Endocrinology

Methodology

Sequencing + MLPA

SNS Code

34900

OMIM

#612463

Gene Number

1

Test / Mutation List

GNAS

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.

]]> Barakat syndrome: GATA3 gene https://genomed.pt/en/barakat-syndrome-gata3-gene/ Wed, 12 Aug 2020 03:54:34 +0000 https://genomed.pt/?p=21050
Speciality(ies) / Other Speciality(ies)

Endocrinology

Methodology

Sequencing

SNS Code

34900

OMIM

#146255

Gene Number

1

Test / Mutation List

GATA3

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.

]]> 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.

]]> Combined pituitary hormone deficiency: PROP1 gene https://genomed.pt/en/combined-pituitary-hormone-deficiency-prop1-gene/ Wed, 12 Aug 2020 03:52:02 +0000 https://genomed.pt/?p=21006
Speciality(ies) / Other Speciality(ies)

Endocrinology

Methodology

Sequencing

SNS Code

34900

OMIM

#262600

Gene Number

1

Test / Mutation List

PROP1

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.

]]> Familial dyslipidemia / hypercholesterolemia: gene panel https://genomed.pt/en/familial-hypercholesterolemia-gene-panel/ Wed, 12 Aug 2020 02:36:05 +0000 https://genomed.pt/?p=20562
Speciality(ies) / Other Speciality(ies)

Metabolic Diseases

Endocrinology

Methodology

NGS, with CNVs analysis

SNS Code

34900

OMIM

–

Gene Number

27

Test / Mutation List

ABCA1, ABCG5, ABCG8, APOA2, APOA5, APOB, APOC2, APOC3, APOE, APTX, CREB3L3, CYP27A1, EPHX2, GHR, GPD1, GPIHBP1, ITIH4, LDLR, LDLRAP1, LIPA, LIPI, LMF1, LPL, LRP6, PCSK9, PPP1R17, USF1

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.

]]> Familial hypocalciuric hypercalcemia / Neonatal severe hyperparathyroidism: CASR gene – familial case https://genomed.pt/en/familial-hypocalciuric-hypercalcemia-neonatal-severe-hyperparathyroidism-casr-gene-familial-case/ Wed, 12 Aug 2020 02:37:24 +0000 https://genomed.pt/?p=20578
Speciality(ies) / Other Speciality(ies)

Endocrinology

Nephrology

Methodology

Sequencing

SNS Code

36198

OMIM

*601199

Gene Number

1

Test / Mutation List

CASR

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.

]]> Familial hypocalciuric hypercalcemia / Neonatal severe hyperparathyroidism: CASR gene – index case https://genomed.pt/en/familial-hypocalciuric-hypercalcemia-neonatal-severe-hyperparathyroidism-casr-gene-index-case/ Wed, 12 Aug 2020 02:37:15 +0000 https://genomed.pt/?p=20574
Speciality(ies) / Other Speciality(ies)

Endocrinology

Nephrology

Methodology

Sequencing

SNS Code

36197

OMIM

*601199

Gene Number

1

Test / Mutation List

CASR

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.

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