Genetic Testing

Our Hereditary Cancer Screening and Risk Reduction Program at Wilmot Cancer Institute helps patients with a known hereditary cancer syndrome or those with a personal or family history of cancer. We provide cancer genetic counseling and testing, assessment of cancer risk, personalized cancer screening plans, guidance about cancer risks, and recommendations for risk-reducing measures. 

Evaluations cover a wide range of hereditary cancer syndromes, including:

• Familial adenomatous polyposis (FAP)
• Hamartomatous polyp syndromes (Peutz-Jeghers, Cowden, Juvenile Polyposis Syndrome)
• Hereditary breast and ovarian cancer syndromes
• Li-Fraumeni syndrome
• Lynch syndrome
• mUTYH associated polyposis (MAP)

Our Pediatric Hereditary Cancer Screening and Risk Reduction clinic sees children at any age with hereditary cancer predisposition syndromes or children with a significant family history of cancers associated with childhood-onset cancer predisposition syndromes. We provide genetic testing to confirm diagnosis when needed, assessment of cancer risk, personalized cancer screening plans, and genetic counseling for families, including testing for other family members and estimating the risk of cancer returning.

Hereditary cancer syndromes we test for include:

• Constitutional mismatch repair deficiency (CMMRD) syndrome
• Familial adenomatous polyposis (FAP)
• Hamartomatous polyp syndromes (Peutz-Jeghers, Cowden, Juvenile Polyposis Syndrome) and MUTYH associated polyposis (MAP)
• Hematological malignancies cancer predisposition syndromes including bone marrow failure syndromes
• Hemihypertrophy (Beckwith-Wiedemann syndrome and isolated hemihypertrophy)
• Hereditary endocrine syndromes (Paraganglioma-Pheochromocytoma Syndromes, MEN)
• Li-Fraumeni syndrome
• Neurofibromatosis

We evaluate adults and children for many conditions, including:

• Chromosome disorders
• Neurodevelopmental genetic syndromes
• Hereditary kidney disorders
• Hearing loss and deafness
• Retinitis pigmentosa and Usher syndrome
• Periodic fever syndromes such as Familial Mediterranean Fever
• Ehlers-Danlos syndrome
• Skeletal dysplasia/short stature
• Vascular malformation syndromes such as Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease), Familial Cerebral Cavernous Malformation (CCM), and RASA1-related disorders

We also offer specialized programs and clinics for specific needs.

Our metabolic staff includes a medical doctor, metabolic nurse, and Registered Dietitian . The team provides evaluation, diagnosis, and treatment (medications and nutritional service) as well as long-term follow-up for children and adults of all ages with inborn errors of metabolism.

Along with genetic testing for patients and their families, we also provide genetic counseling.

We also evaluate undiagnosed individuals with symptoms concerning for inborn errors of metabolism such as hypoglycemia, metabolic acidosis, lactic acidosis, hyperammonemia, and elevated CK (rhabdomyolysis). For patients with inborn error of metabolism, we continue treatment and provide long-term follow-up.

Emergency care for our metabolic patients includes a 24/7 provider line.

Lastly, as a New York State Newborn Screening referral center, we and evaluate neonates for inborn error of metabolism.

Some of the diagnoses we treat include:

• Amino acid disorders (e.g., Phenylketonuria (PKU), MSUD)
• Fatty acid oxidation defects (MCAD deficiency, VLCAD deficiency and others)
• Urea cycle disorders
• Organic acid disorders (e.g., MMA, PA, IVA, GA1)
• Biotinidase deficiency and holocarboxylase synthetase deficiency
• Carnitine Uptake Defects
• Mitochondrial disorders
• Glycogen storage disorders
• Lysosomal storage disorders (e.g., Fabry disease), and Mucopolysaccharidosis (MPS)
• Creatine deficiency disorders

The Neurogenetics Consultation Service at URMC provides professional pre-test and post-test genetic counseling, and access to the latest research for rare neurogenetic conditions. We are one of the few programs in New York State with physicians board certified in both child neurology and medical genetics. We see patients with a broad range of developmental disorders including:

• Epilepsy
• Developmental/intellectual disability
• Autism
• Developmental encephalopathies
• Angelman syndrome
• Fragile X syndrome
• Chromosomal disorders
• Neurometabolic disorders
• Mitochondrial disorders
• Brain malformations
• Muscular dystrophies and myopathies
• Neurocutaneous disorders (Tuberous sclerosis, Neurofibromatosis)
• Leukodystrophies
• Ataxias
• Batten disease

Services we provide:

• Evaluation and clinical care of children with genetic conditions of the nervous system
• Diagnostic genetic testing
• Genetic counseling with a board-certified genetic counselor
• Research opportunities and clinical trials for various conditions

Our collaborative specialty clinics include:

• Batten Disease Center
• Hereditary Ataxia Program
• Leukodystrophy Care Center
• Neurofibromatosis Program
• Pediatric Neuromuscular Clinic (DMD, SMA, Hereditary Neuropathy programs)

Genetic eye disease is a leading cause of blindness in children and young adults. Our team is made of two ophthalmologists who specialize in genetic ophthalmic conditions, also including ocular oncology.

We also have two genetic counselors who provide genetic counseling to families with hereditary eye conditions and coordinate genetic testing when needed.

Primary ocular genetic conditions we evaluate and manage include:

• Retinitis pigmentosa
• Stargardt disease
• Other inherited retinal dystrophies
• Hereditary optic neuropathy
• Pediatric cataracts and glaucoma
• Albinism
• Other ocular malformations

We also care for patients with a wide variety of genetic conditions which affect other areas of the body along with the eye such as neurofibromatosis, mitochondrial disorders, tuberous sclerosis and Marfan syndrome.

The ocular oncology arm of ocular genetics clinic offers comprehensive diagnosis and treatment for retinoblastoma and other tumors of the eye.

Our office is composed of genetic counselors, Maternal-Fetal Medicine specialists (including one who is also a geneticist), and dedicated support staff. We specialize in risk assessment for hereditary conditions that may affect a pregnancy, preconception counseling, diagnostic obstetric ultrasound, genetic testing of the pregnancy by amniocentesis or chorionic villus sampling, and care of the fetus or pregnant person with a known genetic diagnosis.

Two of the genetic counselors serve in a Fetal Care Coordinator role to help guide patients through the complex and sometimes overwhelming process of navigating the journey from prenatal diagnosis through delivery, and into the newborn period. We work closely with Neonatology, Cardiology, Pediatric Surgery, and other specialists in order to obtain the most information possible and make an individualized plan of care for each family.

We provide these services for pregnancies at risk for, or that are affected by, any structural or developmental condition. Some common indications for referral are:

• Family or personal history of potentially hereditary structural condition (e.g. congenital heart defects, cleft lip/palate, spina bifida)
• Family or personal history of known genetic diagnosis (e.g. Ehlers-Danlos, Phenylketonuria, Neurofibromatosis, chromosomal deletions)
• Positive carrier screening for disorders like Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X, or Duchenne Muscular Dystrophy
• Positive pregnancy screening results for Down Syndrome or other common chromosomal differences
• Concerning findings on obstetric ultrasound