Genetics

In a Talking Pediatrics Crack the Case episode about family medical history and genetic testing, Dinel Pond, lead genetic counselor at Children’s Minnesota, discuss three cases that presented in the Minneapolis clinic, getting a comprehensive and useful family history, and tips to navigate (and explain) genetic testing with families.

Brian Skotko, MD

David Gregornik, PharmD, BCOP

Stephen Kingsmore, MD, DSc

John E. Wagner, MD

Children’s Minnesota offers a rare disorders clinic for children with an undiagnosed condition.  Each month we bring together a multidisciplinary team of experts to review a child’s medical record to help determine what additional tests might be recommended to find a diagnosis and treatment options.  Often times, families have been on a diagnostic odyssey going from one specialist to another without an answer.

The Metabolic and Newborn Screening Follow-up Program offers initial confirmatory evaluations and follow-up care for children whose blood spot screens are abnormal or have a presumed or confirmed inborn error of metabolism. Our team of experts includes biochemical geneticists who specialize in metabolic disorders, genetic counselors, a nurse and a metabolic dietician.

Prader-Willi syndrome is a genetic condition that occurs in about 1 in every 12,000-15,000 people.

In September 2004, our beautiful daughter Kylie was born. Five months later, our world was turned upside down. Our baby girl started having seizures and was diagnosed with a rare genetic disease. During the first three years of her life, we spent countless days in the hospital, watching as Kylie suffered from thousands of seizures and was subjected to many tests and procedures.

Our genetic counselors are available to help you determine whether a genetic consultation may be helpful. Children’s Physician Access is available 24/7 with a representative on the line throughout the call to assist with referrals, consultations and admissions and to provide general information.