Pediatric Genetics

Our genetic experts specialize in diagnosing and treating genetic disorders and congenital abnormalities. We offer you and your family effective therapies, information and support.

Find your care

Our highly skilled team is here to provide information, therapies and hope to you and your family. Call 310-825-0867 for an appointment or 310-794-7274 to schedule a prenatal genetic screening.

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Why choose UCLA Health for pediatric genetics?

In the division of pediatric genetics at UCLA Mattel Children's Hospital, we offer comprehensive diagnostic and genetic counseling services. We work with people who have genetic disorders and congenital abnormalities. Our genetic experts are uniquely qualified to diagnose a wide range of conditions, including rare disorders.

Our certified genetic counselors understand how overwhelming it is to be told your child has a chronic, complex condition . We’ll help you learn what to expect and how to get your child the care they need. We’re dedicated to delivering the highest level of professionalism and experience you expect from UCLA Health. Highlights of our program include:

Far-reaching expertise: We have extensive experience helping children and adults with the full spectrum of genetic disorders, inherited conditions and congenital abnormalities. Our expertise includes developmental and intellectual disabilities, birth defects and metabolic disorders . We also help people with rare or undiagnosed conditions.

Innovations in genetics: Our Diagnostic Molecular Pathology Laboratory was one of the first facilities in the nation to offer DNA-based tests. These tests diagnose a wide variety of genetic and infectious diseases. Our experts are always pursuing new discoveries to help our patients and their families.

Multispecialty team: You’ll receive care from a team of medical geneticists, genetic counselors, nurses, registered dietitians and social workers. Each member of our team specializes in diagnosing and managing a range of disorders.

Precise diagnostics: We work closely with experts at the UCLA Clinical Genomics Center and UCLA Health Precision Medicine program to deliver the most accurate diagnosis. We find the exact DNA change responsible for a wide range of disorders. Armed with this information, children and adults are more informed about conditions and better able to manage them.

Unmatched research: Our team is skilled at helping people with uncommon conditions. We collaborate with the Undiagnosed Disease Network at UCLA and the California Center for Rare Diseases at UCLA. We are at the forefront of research that leads to advances in understanding, diagnosing and treating new and rare genetic disorders.

Our areas of care

We help patients and families understand genetic disorders, manage conditions and seek the most effective therapies. Our experts lead the nation in precise diagnostics and life-changing advances in treatments, even for rare conditions.

We’re always looking ahead. Through groundbreaking research, life-altering clinical trials and compassionate care, we help our patients and their families live their healthiest lives . Our areas of care include:

Medical genetics clinic

The Genetics Clinic offers diagnoses, evaluations and genetic counseling for patients and families. We help people with a wide range of congenital conditions and genetic disorders. Our counselors also provide preconception genetic counseling for people with a personal or family history of genetic disorders.

Metabolic clinic

We diagnose and treat infants, children and adults with inherited metabolic disorders. These disorders affect how the body breaks down food, uses food as energy and gets rid of waste.

Our team includes a nurse, dietician and geneticist who specializes in metabolic disorders. We deliver breakthrough therapies for people of all ages. We also offer our patients access to clinical trials that aren’t available elsewhere. And as a designated area service center for the California Newborn Screening Program, we:

  • Guide parents through diagnosis
  • Help manage treatment plans
  • Offer hope through innovative research

Specialty clinics 

Our specialty clinics evaluate and help individuals with specific genetic disorders and congenital abnormalities. Many of these disorders are rare. We educate patients and their families, helping them understand their prognosis and explore treatment options.

Using state-of-the-art technology, we identify the exact genetic cause of these conditions. Knowing the cause enables patients to learn about the condition and gain more control over their health. Our genetic counselors also work with parents to assess the risk of passing the disorder to future children. 

Types of genetic disorders we treat

There are thousands of genetic disorders, many of which are rare. Our team specializes in diagnosing and managing these conditions. We work with you and your family to help you understand your prognosis and treatment. We have experience with all types of genetic disorders and inherited conditions, including:  

Congenital abnormalities: Birth defects and exposure to a substance during pregnancy, known as teratogenic exposures, that may cause an abnormality in the baby.

Endocrine disorders and metabolic disorders: Problems that affect the body’s ability to regulate hormones or break down food and use it as energy.

Epilepsy: Disorder that causes seizures.

Hearing loss: Many types of deafness and hearing loss that are inherited.

Musculoskeletal/connective tissue disorders and skeletal dysplasias: Hundreds of disorders that affect bone development, cartilage growth and tissues that attach structures inside the body.

Neurodevelopmental disorders: Physical and intellectual disabilities that cause delays in development.

Renal disease: Disorders affecting the kidneys.

Disorders we treat in our specialty clinics

At our specialty clinics, we work as a team to offer education, guidance and therapies. Specialists from different departments come together to address the needs of children and adults with genetic disorders, including:  

22q11.2 deletion syndrome: A disorder, also called DiGeorge syndrome, that can cause heart, kidney and gastrointestinal problems; a weakened immune system; cleft palate; and developmental issues.

ASXL-related disorders: Several syndromes that cause physical and intellectual disabilities, distinct head and facial features, heart defects, seizures, speech delays and problems with eating.

Autism spectrum disorder: A developmental disorder that leads to challenges with social interaction and communication.

Craniofacial abnormalities: Birth defects, also known as congenital anomalies, that affect the face or the head.

Disorders of sex development: Disorders that happen when a child’s genitals develop abnormally or when there’s a mismatch between a child’s genitals and genetic makeup.

Duchenne muscular dystrophy: Disorder that causes muscle weakness that worsens over time.

Immune deficiency syndromes: Multiple disorders that affect the immune system’s ability to protect the body from bacteria and viruses.

Marfan syndrome: Connective tissue disorder that affects the entire body, including the eyes, heart, bones and blood vessels.

Genetic tests and procedures we offer

As national leaders in medical genetics, we specialize in diagnosing and treating the full range of chromosomal abnormalities and genetic disorders. Our experts use sophisticated technology and unparalleled expertise to interpret data and explain information clearly to our patients and their families. We offer:

Clinical genomics center

We use next-generation sequencing technology and sophisticated computers to identify the exact DNA change that causes hundreds of disorders. This specific genetic information enables us to pioneer groundbreaking research. We develop therapies that truly make a difference.

Our tests, procedures and services include:

  • Consultations with a team of experts who specialize in pediatric genetics and the cause of disorders and disease
  • Clinical exome sequencing, a test that identifies disease-causing DNA variants
  • Expert interpretation by our Genomic Data Board
  • Fast report turnaround time
  • Genetic counselors who offer pre-and post-test counseling

Newborn screening

Newborn screening is a state public health service that ensures all newborn babies receive testing for certain serious genetic conditions. The UCLA Area Service Center, designated by the Genetic Disease Screening Program of the California Department of Public Health, helps to facilitate prompt diagnosis and treatment of infants at risk for a disorder. We serve the counties of San Luis Obispo, Santa Barbara, Ventura and the northern area of Los Angeles County.

Our genetic experts screen for over 80 genetic disorders, including:

  • Cystic fibrosis
  • Endocrine disorders
  • Metabolic disorders
  • Hemoglobin disorders
  • Severe combined immunodeficiency

Meet our team

The UCLA Health genetics team includes world-renowned experts in molecular genetics. You’ll receive care from a highly skilled team of clinical geneticists, genetic counselors, registered dietitians and social workers. We collaborate to deliver compassionate, comprehensive care and services to you and your family.

Contact us

Call 310-825-0867 for appointments and referrals. Call 310-794-7274 to schedule prenatal genetic screenings and services.