Medical Genetics Unit

Personnel

Director: Christian Moya, PhD, Lab Director
Phone: +34961366150
Email: [email protected]
Director: Celia Buades, PhD, Lab Director
Phone: +34 902364669
Email: [email protected]
Director: Sonia Santillán, PhD, MD, Medical Director
Phone: +902364669
Email: [email protected]
Diego Cantalapiedra, PhD, Laboratory Assistant Director
Phone: +34902364669 ext 117
Fax: +34902364670
Email: [email protected]
Dan Diego, PhD, BSc, Laboratory Assistant Director
Phone: +34902364669
Email: [email protected]
Vanesa Felipe, BSc, Laboratory Assistant Director
Phone: +34902364669
Email: [email protected]
Alejandro Romera, PhD, Laboratory Assistant Director
Phone: +34 902364669
Email: [email protected]

Conditions and tests

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Balanced Chromosome Rearrangement Studies
Custom Deletion/Duplication Testing
Prenatal testing
Custom Sequence Analysis
Carrier testing
Genetic counseling
Identity Testing
Marker Chromosome Identification
Mutation Confirmation
Preimplantation Genetic Diagnosis (PGD)
Result interpretation
Uniparental Disomy (UPD) Testing
Whole Exome Sequencing
Whole Genome Sequencing

List of certifications/licenses

Certifications

EMQN, Number: DFNB1, Expiration date: 2011-06-29
EMQN, Number: DNA-SEQ (Full), Expiration date: 2011-06-29
EMQN, Number: EGFR EQA scheme - 2011, Expiration date: 2011-06-29
EMQN, Number: FAP, Expiration date: 2011-06-29
ISO15189, Number: ES-0052/2005, Expiration date: 2014-01-13

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.