ENDGF45 – GenoMed https://genomed.pt GenoMed Thu, 21 Sep 2023 22:03:07 +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 ENDGF45 – GenoMed https://genomed.pt 32 32 Loeys-Dietz syndrome: TGFBR2 gene https://genomed.pt/en/loeys-dietz-syndrome-tgfbr2-gene/ Wed, 12 Aug 2020 02:25:15 +0000 https://genomed.pt/?p=20490
Speciality(ies) / Other Speciality(ies)

Cardiology

Pediatrics Cardiology, Internal Medicine, Reumatology

Methodology

Sequencing

SNS Code

34900

OMIM

#610168

Gene Number

1

Test / Mutation List

TGFBR2

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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