Genetics Consultation Service

Through the Genetics Consultation Service, diagnostic services are available for a wide range of genetically determined disorders and for congenital problems that originate during fetal life. From the fetal stages of life to the elderly years, individuals may develop symptoms that indicate a need for genetic evaluation. Examples include major malformations, skeletal dysplasias, mental retardation syndromes, renal failure, and late-onset neurodegeneration disorders for patients whose original diagnoses may be made by other specialists. This service educates patients and families about genetic disorders and supports them in planning for the future. Examples of conditions managed through the service include heart disease and hypertension, common cancers, major psychoses, and environmental exposures that threaten fetal development.

This service also treats many patients with inborn errors of metabolism where success requires prompt diagnosis and effective long-term management. Presentation is often in infancy, but may be delayed until later childhood or adulthood. The service is the major treatment site for patients throughout southern New England and surrounding areas.

Contact: Irene White

	Bale, Allen Everett, MD	Professor of Genetics; Director, DNA Diagnostic Lab
	Carling, Tobias, MD, PhD	Assistant Professor of Surgery (Endocrine Surgery); Section Chief; Director, Yale Endocrine Neoplasia Laboratory	(203) 737-2036 Appts (203) 785-2498 Fax
	Mahoney, Maurice Jeremiah, MD, JD	Professor of Genetics, of Obstetrics, Gynecology, and Reproductive Sciences and of Pediatrics; Co-Chair, Embryonic Stem Cell Research Oversight Committee; Executive Director, Human Investigation Committee	(203) 785-2660 Appts (203) 785-3404 Fax
	McGrath, James Michael, MD	Research Scientist in Comparative Medicine, in Genetics and in Pediatrics	(203) 785-2660 Appts (203) 785-3404 Fax
	Seashore, Margretta Reed, MD	Professor of Genetics, of Laboratory Medicine and of Nursing; Interim Director, Biochemical Disease Detection Laboratory	(203) 785-2660 Appts (203) 785-3404 Fax

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