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Riley Children's Health

Medical & Molecular Genetics

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Major advancements in medical and molecular genetics have led to new insights about genetic testing and the diagnosis and treatment of genetic conditions. This new information can be used to ensure you and your family of optimal health and effective treatments when necessary.

Gaining Insight Into Your Family’s Health History

The Medical & Molecular Genetics Department at Riley at IU Health offers information, genetic counseling, genetic testing, treatment and referral services for individuals or families touched by inherited conditions or chromosomal disorders.

Our goal is to help families understand the genetic conditions that affect them and provide treatment options. We provide genetic counseling for a variety of hereditary conditions and birth defects and collaborate with doctors throughout the Indiana University Health system to offer the most advanced treatment options.

Clinical Genetics

Clinical genetics is a medical specialty that provides genetic counseling and genetic testing services to individuals and families. The clinical genetics specialists at Riley at IU Health provide consultation for a variety of hereditary conditions and birth defects.

Our genetic counselors are specially trained in genetics, statistics and counseling. They can provide in-depth yet understandable explanations of complex genetic information. They are knowledgeable about all forms of genetic testing and can discuss the risks, advantages and limitations of each type of testing.

Genetic counselors do not pressure a patient or family to have testing or take any particular course of action. Their goal is to arm patients and families with the information they need to make healthcare decisions. If a diagnosis is confirmed, they help families understand how a diagnosis was reached, the medical prognosis and the available treatment options.

Because families may face uncertainty or struggle with the emotional impact of an unwelcome diagnosis or risk assessment, our genetic counselors offer supportive counseling, make referrals to specialists and suggest community resources for further help.

Biochemical Genetics

Biochemical genetics is a subspecialty of clinical genetics that focuses on inborn errors of metabolism (IEM)—or metabolic disorders. Metabolic disorders are characterized by the inability to appropriately utilize fat, carbohydrates or protein in the foods we eat.

Riley at IU Health is the largest medical center in Indiana that treats children and adults with metabolic disorders. Our team of experts includes board certified medical geneticists, two dietitians with specialized training in metabolism, a genetic counselor, a social worker and a team of highly skilled nurses. Through our continuing education and research in urea cycle defects and phenylketonuria (PKU), among other disorders, we offer our patients the latest in medical treatment.

While metabolic conditions cannot be cured, they can often be managed effectively with diet and/or medicines. Treatment is often life-long and, as such, we follow patients from diagnosis (which frequently occurs in infancy) through adulthood.

NORD Center of Excellence

Riley Children’s Health is recognized as National Organization of Rare Diseases (NORD) Center of Excellence. Riley Children’s is the only health system in the state with this designation and is a leader in advancing care and expanding access for children with rare diseases. With the support from experts, families can navigate the challenges of rare diseases with Riley Children’s. Learn more from personal stories intended to raise awareness of rare diseases and to promote research to advance treatment and cures.

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Annual Report

Read more about our patient outcomes, quality improvements and multidisciplinary programs.

Conditions & Services

Conditions Treated

Our pediatric specialists provide patient- and family-centered care for most related conditions. The links below provide more specific information about some, but not all, of the conditions that we treat.

  • Chromosomal Abnormalities
  • Congenital Heart Disease
  • Connective Tissue Disorders
  • Cystic Fibrosis
  • Down Syndrome
  • Fetal Alcohol Spectrum Disorders
  • Lysosomal Storage Disorders
  • Metabolic Disorders
  • Mitochondrial Disorders
  • Omphalocele
  • Prader-Willi Syndrome
  • Sickle Cell Disease
  • Spina Bifida

Services Offered

We offer a number of different Medical & Molecular Genetics services. Below are some, but not all, of the services that we provide. If you have a question about a specific service that is not listed here, please contact our department.

  • Newborn Screening

Doctors and Locations

Doctors

Learn more about the skills and specialties of our doctors.

Department Forms & Resources

Department Forms & Resources

Riley Children's Health provides the following forms for parents, healthcare providers and personnel. We have also curated relevant resources from other websites and provided links with brief descriptions of the information that is available.

Forms

  • Family History Questionnaire 247.339 KB

    Please complete this form and bring it with you to your or your child's appointment.

Resources

  • Genetics Home Reference

    Genetics Home Reference is an online resource for information about genetic disorders. It is a service of the U.S. National Library of Medicine.

Related Programs & Departments

Related Programs & Departments

We provide multispecialty care for a number of conditions. Below are links to our related programs & departments.

  • Cancer Predisposition Program
  • Cardiovascular Genetics Program
  • Cystic Fibrosis Program
  • Maternal-Fetal Medicine (MFM)
  • Maternity & Newborn Health
  • Neonatology (NICU)
  • Neurogenetics Program
  • Riley Heart Center

Related Stories

Related Stories

Blog Leo (Leandro) Galvez

Leo has the heart of a lion

04/27/25

Toddler delivers lessons in love and courage in his young life.

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Blog Ryder Johnson

Riley wraps its arms around one little boy with a rare condition

08/18/24 Patient Stories

“He’s such a special kid, kind of heroic in his own way.” -- Ryder Johnson suffers from an extremely rare genetic mutation that compromises his growth and development, but he doesn’t let that steal his joy.

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Blog K N Tweb1

Small-town kids reunite working at Riley

02/22/24

Katie Sapp and Taryn Fledderman grew up in the small town of Batesville, Indiana. After going their separate ways in school, serendipity brought them together again at Riley.

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Blog Congenital Heart Disease Peds Blog

How Families Can Navigate Healthcare for Congenital Heart Disease

08/22/23 Health & Wellness

When you learn about an issue with your baby’s heart, it can be difficult to process all the information you are learning and navigate the medical care he or she needs. Let’s walk through some key...

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Blog Josieweb11

“They gave us our daughter back”

08/03/23 Patient Stories

Genetics, neonatal, neurology and dietary teams collaborate to give 5-month-old Josie her best chance at life.

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Blog Hazelweb1

Once not expected to survive, baby Hazel is thriving

08/10/21 Patient Stories

Now approaching her 2nd birthday, this little miracle child is smart, sassy and social.

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Blog Maternity Matters Web

PODCAST: Maternity Matters - Riley genetic counselors provide support to parents

08/02/21

Riley genetics counselors provide support to families before pregnancy and in the months leading up to delivery. Through different types of screenings, these counselors can help parents prepare for any obstacles their baby may have to overcome after birth. The counselors are trained in genetics, biology, statistics and psychology. Their expertise allows them to guide parents as they learn information about their child. This week, one of those counselors explains what it looks like when a parent opts for genetic testing and how the field has advanced in the last couple of decades.

Continue reading

Health Professionals

For Health Professionals

The medical genetics specialists at Riley at IU Health work with you to provide the latest information and services for children and adults with inherited conditions. We offer comprehensive evaluation and genetic screening, including newborn screening. To refer a patient, please contact us by phone at 317.944.3966 or by fax at 317.968.1354.

Refer A Patient

Refer A Patient

Riley Children's works with referring physicians in Indiana and beyond.

Refer A Patient

Research

Through our partnership with the Indiana University School of Medicine, our geneticists stay on the forefront of medicine by conducting research and clinical trials related to genetic disorders.

Our experts are studying the role genes play in conditions such as chromosomal abnormalities, familial cancers, inborn errors of metabolism and neurodegenerative disorders as well as exploring new treatments through research and clinical trials in gene therapy.

Education

Riley Children's partners with the IU School of Medicine to provide a broad set of training opportunities for medical students, residents and fellows who are interested in careers in medical and molecular genetics.

Education Resources:
  • Medical Students
  • Residents
  • Fellows
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Designated as Best Children's Hospitals by U.S. News & World Report, Ranked in 10 Specialties in 2023-24

©2025 Riley Hospital for Children at
Indiana University Health
Find adult services at iuhealth.org


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