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Family 2-Part Kit

Family Brochure

Disorders

Clinics for
Specific Disorders

Birth Defect Network

Hearing Screening

Medical Home

Destroying the
Blood Spot

Objection to Newborn Screening (Religious)

Frequently Asked Questions

Clinics for Specific Disorders

Endocrinology

Endogrinology is the study of how the body makes and uses certain hormones. If your baby's screen shows a possible endocrine disorder, such as hypothyroidism or congenital adrenal hyperplasia, further testing will be necessary. After a diagnosis, your baby's doctor may refer you to an endocrinologist, who speciliazes in this type of disorder.

Utah Diabetes Center
(801) 581-7761

Dr. Mike T. Swinyard
(801) 838-9090

Cystic Fibrosis Clinic

Many babies have screens that are abnormal for Cystic Fibrosis, however this does not mean your baby has cystic fibrosis. If your baby’s screening is abnormal for both the first and second screen, we will test for DNA. You may need to have a test called a “Sweat test” at Primary Children’s Medical Center. If this happens, you will meet with a genetic counselor to talk about what this means. Your baby may need to follow up in the Cystic Fibrosis Clinic located at Primary Children’s Medical Center.

Intermountain Cystic Fibrosis Center
(801) 662-1765

Hematology Clinic

If your baby’s screening shows a possible abnormal hemoglobin further testing may be needed. Depending on the results of the testing, you may receive some information from your baby’s doctor. Your doctor may refer you to the University of Utah, Division of Pediatric Hematology. The Hematology clinics are held at the Primary Children’s Medical Center.

(801) 662-4757

Metabolic Clinic

If your baby’s screening shows that they need further testing for phenylketonuria (PKU) or galactosemia or other metabolic disorders, your doctor will refer you to the Metabolic Clinic. The Metabolic Clinic provides diagnosis and treatment services for children and adults with PKU, galactosemia and other metabolic disorders.

Evaluation and management services are provided by a team which includes a pediatric geneticist, nutritionist, psychologist, social worker, genetic counselor, and coordinator.

The Metabolic Clinic is administered by the Division of Medical Genetics, Department of Pediatrics, University of Utah Medical Center. The Metabolic clinics are held at Primary Children's Medical Center.

Metabolic Clinic
Nicola Longo, M.D.
(801) 585-2457