Clinical Genomics Unit

Clinical Genomics Unit, UGC
Hospital Universitari Germans Trias i Pujol (HUGTiP)
Department: Genetics Service
Ctra de Can Ruti,, Cami de les Escoles s/n, Edifici Montanya (PMPPC)
Badalona, Catalonia, Spain 08916
Phone: +34 930331506
Fax: +34 934651472
Email: ecastellanosp.germanstrias@gencat.cat
Online Contact: https://www.germanstrias.org/en/research/cancer/22/clinical-genomics-research
Website: https://www.germanstrias.org/en/research/cancer/22/clinical-genomics-research
Affiliated with:
- IGTP- Program of Personalize and Predictive Medicine for Cancer, Hereditary Cancer Group, http://www.germanstrias.org/research/ca-cancer/10/cancer-hereditari
- Phakomatoses Spanish Reference Center - CSUR, http://www.hospitalgermanstrias.cat/web/guest/unidad-genetica-clinica?inheritRedirect=true

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GTR Lab ID: 320506, Last updated:2023-12-01

Personnel

Director: Elisabeth Castellanos, PhD, Lab Director
Phone: +34 930331506
Fax: +34 934651472
Email: ecastellanosp.germanstrias@gencat.cat

Conditions and tests

27 conditions/phenotypes with 15 tests
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Alport syndrome1 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant polycystic kidney disease1 test
Autosomal recessive Alport syndrome1 test
Capillary malformation-arteriovenous malformation 11 test
Cardiofaciocutaneous syndrome 12 tests
Costello syndrome2 tests
Familial meningioma1 test
Fibromatosis, gingival, 12 tests
Juvenile myelomonocytic leukemia2 tests
Legius syndrome3 tests
Neurofibromatosis, type 13 tests
Neurofibromatosis, type 22 tests
Neurofibromatosis-Noonan syndrome1 test
Noonan syndrome2 tests
Noonan syndrome with multiple lentigines2 tests
Noonan syndrome-like disorder with loose anagen hair 12 tests
Polycystic kidney disease 21 test
Polycystic kidney disease 3 with or without polycystic liver disease1 test
Polycystic kidney disease, adult type1 test
Schwannomatosis 12 tests
Schwannomatosis 21 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tuberous sclerosis syndrome1 test
Von Hippel-Lindau syndrome1 test
X-linked Alport syndrome1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Custom Deletion/Duplication Testing
Prenatal testing
Custom Sequence Analysis

Participation in external programs

Standardization programs

Mutation-specific Databases

Data exchange Programs

Mutation-specific Databases

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