Pediatrics: Genetics

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Welcome to the Section of Genetics

Pediatric service includes general genetics, Newborn Screening follow-up, metabolic, hereditary connective tissue (HCT), cleft palate, neurofibromatosis (NF) RASopathy, phenylketonuria (PKU), sickle cell, genomic medicine, muscular dystrophy, cystic fibrosis, and Wisconsin outreach clinics.

Adult service includes general genetics, phenylketonuria (PKU), metabolic, genomic medicine, prenatal & maternal fetal care, hereditary connective tissue (HCT), and Wisconsin outreach clinics.

Multidisciplinary service includes neurofibromatosis (NF) RASopathy, cleft palate and velocardiofacial.

Research and Testing is conducted in the Human and Molecular Genetics Center, Advanced Genomics (AGEN), Fatty Acid Oxidation Disorder and Developmental & Neurogenetics laboratories.

 

Short descriptions and/or links of some of our Genetics clinics are listed below:

General Genetics Clinic: The Genetics Clinic is staffed by medical geneticists and genetic counselors. Genetic counselors have a master's degree and are either board eligible or certified by the American Board of Genetic Counseling. Indications for referrals to this clinic can include personal and family histories of birth defects and other congenital anomalies, dysmorphic features, mental retardation, developmental delay, and known or suspected genetic conditions.

Metabolic Clinic: Individuals in the Metabolic Clinic will be evaluated by a biochemical geneticist, genetic counselor and registered dietitian. This clinic provides diagnosis, treatment and management of individuals and families with underlying inborn errors of metabolism and mitochondrial disorders.

Newborn Screening Follow-up Program: The Genetics Center has been designated by the State of Wisconsin Newborn Screening Program as a site for follow-up and management of abnormal hemoglobin traits, cystic fibrosis, phenylketonuria, organic acidemias and the MCAD and MCAD related disorders.

Phenylketonuria (PKU) Clinic: This is a multidisciplinary clinic designated by the State of Wisconsin for diagnostic follow-up, medical treatment and dietary management of PKU. It is staffed by a medical geneticist, genetic counselor and registered dietitian.  Click here for more information.

Prenatal Genetics Clinic: This clinic helps patients who are considering a pregnancy and pregnant patients The clinic provides assessment, genetic counseling, and prenatal diagnosis through ultrasound examination, amniocentesis and chorionic villus sampling where there is a possible or known increased risk of fetal abnormality. This includes pregnancies with advanced maternal age, pregnancies in which the fetus has been found to have a malformation or chromosomal abnormality, families with a previous child with a prenatally detectable condition and couples who are carriers for a genetic disorder. The clinic can also help when the pregnancy is at increased risk due to family history or consanguinity and when concerns regarding the effects of exposure to potential teratogens arise. Evaluations are carried out in conjunction with the perinatologists at the Froedtert & Medical College Maternal-Fetal Care Center (414) 805-6624.

Neurofibromatosis Clinic: The Neurofibromatosis (NF) Clinic provides diagnostic and management of NF by an experienced team using a multidisciplinary approach. These specialists include: a medical geneticist, genetic counselors, neurologist, dermatologist, speech therapist, physical therapist and occupational therapist.  Click here for more information.

Hereditary Connective Tissue (HCT) Clinic

Hemophilia Clinic

Cleft Palate Clinic

Sickle Cell Clinic

Genomic Clinic

Velocardiofacial Clinic

Cystic Fibrosis Clinic

Rare and Undiagnosed Disease Program


 

Medical College of Wisconsin
Department of Pediatrics
Medical Genetics Center
8701 Watertown Plank Road
PO Box 1997
Milwaukee, WI 53201-1997
Phone: (414) 266-2979
Fax: (414) 266-1616

webmaster@mcw.edu
© 2014 Medical College of Wisconsin
Page Updated 02/24/2014