Clinical Genetics

Why choose UCLA Health for genetic testing and counseling?

The UCLA Health clinical genetics team offers comprehensive evaluations and genetic counseling for people with genetic disorders and congenital abnormalities. Our team of experts is uniquely qualified to diagnose a wide range of conditions, including rare disorders.

Highlights of our program include:

Patient-centered care: Our board-certified genetic counselors understand how overwhelming it is to be told that you or your child has a chronic, complex condition. We explain what to expect and how to get the best care for you or your child.

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 state-of-the-art clinical genetic testing. These tests diagnose a wide variety of genetic diseases. Our experts are always pursuing new discoveries to help our patients and their families.

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

Precise diagnostics: We work closely with pathologists at the UCLA Clinical Genomics Center to deliver the most accurate diagnosis. We find the exact DNA change responsible for an array of disorders, helping you understand and manage conditions effectively.

Unmatched research: Our team is skilled at helping people with uncommon conditions. We collaborate with the Undiagnosed Disease Network and California Center for Rare Diseases, both based at UCLA Health. 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 treatment and management. Our experts lead the nation in precise diagnostics and life-changing advances in genetics 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 diagnosis, evaluation and genetic counseling for patients and families. We help people with a wide range of congenital conditions and genetic disorders. We also provide genetic counseling services for people with a family history of genetic disorders.

Metabolic clinic

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

Our team includes geneticists, dietitians, nurses, physician assistants and social workers who specialize in metabolic disorders. We deliver breakthrough treatments and access to clinical trials and research studies for people of all ages.

Newborn Screening Program

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.

The Newborn Screening Program screens for more than 80 genetic disorders. Our genetics experts help diagnose and manage metabolic disorders detected by newborn screening.

Specialty clinics

In our specialty clinics, we evaluate and help individuals with specific genetic disorders and congenital abnormalities. We educate you and your family, helping you understand your or your child’s prognosis and explore treatment options.

Using state-of-the-art technology, we identify the exact genetic cause of a condition, helping you gain more control over your health. Our genetic counselors can also help you understand the risks of passing the disorder to future children.

Types of genetic disorders we diagnose and manage

There are thousands of genetic disorders, many of which are rare. Our team specializes in diagnosing and managing these conditions.

Disorders we diagnose and manage in medical genetics and metabolic clinics

We have experience with many types of genetic disorders and inherited conditions, including: 

• Congenital abnormalities: Problems that occur during fetal development and are present at birth
• 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 caused by short, uncontrollable periods of electrical activity in the brain that lead to seizures
• Hearing loss: Deafness or impaired hearing that may be passed down from parents to children, even without a family history of hearing loss
• Hereditary hemorrhagic telangiectasia and other vascular malformations: Disorders that affect the development and function of blood vessels
• Musculoskeletal/connective tissue disorders: Disorders that affect bone development, cartilage growth and tissues that bind and support structures inside the body
• Neurodevelopmental disorders: Physical and intellectual disabilities that cause delays in development, including autism spectrum disorder
• Renal diseases: Disorders affecting the kidneys, organs that help remove extra fluid and waste from the bloodstream

Disorders we treat in specialty clinics

At our specialty clinics, we offer education, guidance and management for children and adults with specific genetic disorders. Specialists from different departments come together to treat disorders such as:

• 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
• Craniofacial abnormalities: Problems with the face or skull that are present at birth
• Disorders of sex development: Disorders that happen when a child’s genitals develop irregularly or when there’s a mismatch between a child’s genitals and genetic makeup
• Marfan syndrome: Connective tissue disorder that affects the entire body, including the eyes, heart, bones and blood vessel
• Neuromuscular/Duchenne muscular dystrophy: Disorder that causes muscle weakness that may worsen over time
• Pediatric cancer predisposition (PCPD) syndromes: Genetic conditions that increase the risk of developing cancer
• Skeletal dysplasia: A rare genetic condition that causes irregular development in cartilage, joints and bones, often affecting the arms, legs, skull, ribcage or spine

Genetic tests and procedures we offer

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

We work closely with the UCLA Clinical Genomics Center to use next-generation sequencing technology. These tools can identify the exact DNA changes that cause thousands of disorders. This specific genetic information also enables us to pioneer groundbreaking research that may lead to the development of future therapies.

Our tests, procedures and services include:

• Consultations with a team of experts who specialize in pediatric and adult genetics
• 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

Meet our team

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