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Updated: Aug 22, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
[Referral criteria to clinical genetics from primary care: Consensus document]
Ismael Ejarque Doménech1, Purificación Marín Reina2, Sixto García-Miñaur Rica3
1Centro de Salud de Almácera, Valencia, Valencia, España; Consulta de Genética Clínica, Hospital Vithas Aguas Vivas, Alzira, Valencia, España.
Introduction:
Primary care (PC) is the first contact between the patient and the doctor, so it is essential to be clear about the criteria for suspecting a genetic disease and where it should be referred for study.
Material And Methods:
Four scientific societies: the Spanish Society of Family and Community Medicine (semFYC), the Spanish Association of Human Genetics (AEGH), the Spanish Association of Pediatrics (AEP) and the Spanish Society of Medical Oncology (SEOM), have reviewed the criteria for referral to the clinical genetics services of the different published guidelines with the purpose of define the recommendations for PC.
Conclusions:
With this consensus document, the PC doctor and pediatrician will know when, how and where to refer their patients with hereditary and/or genetic pathology to clinical genetics services.
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