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Genetic Syndromes

Everything about you, from the color of your eyes and even your personality, is in your genes. Your genetics play a role in your health, too. When genes change or mutate, they increase your chance of developing certain genetic syndromes. These syndromes can cause chronic conditions, hereditary diseases, birth differences and developmental disorders.

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DNA + your health

Genetic testing can help you get the answers you need if you're concerned that you may be a carrier for a genetic condition, are experiencing symptoms or are planning to have children.

Whatever your situation, genetic testing can help you make important decisions about your and your family's health. Our physicians and certified genetics counselors are here for whatever you need, including helping you decide if genetic testing is right for you.

Jatin Roper, MD, Director of the Center for Hereditary Gastrointestinal Cancer at Tufts Medical Center and Chelsea Mandigo, Genetic Counselor in laboratory using a pipet for a genetics test.
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There are a range of genetic disorders, including those present at birth and others where symptoms don't appear until later in life.

We are experts at diagnosing and managing common genetic conditions, including:

22q11.2 deletion
Beckwith-Wiedemann syndrome
Cardiac arrhythmia
Cleft lip and palate
Cognitive disorder
Congenital heart defects
Connective tissue disorders
Craniofacial disorders
DiGeorge syndrome
Down syndrome
Failure to thrive
Fragile X syndrome
Growth issues
Hearing loss
Hemihypertrophy syndrome
Intellectual disability
Kidney diseases
Marfan syndrome
Multiple congenital abnormalities
Neuromuscular disorders
Overgrowth syndrome
Polycystic kidney disease
Retinal disorders
Spinal muscular atrophy
Tay Sachs disease
Velocardiofacial syndrome
Williams syndrome


We use genetic testing to identify any changes in your genes. Our team of knowledgeable experts uses this information to determine your chance of having a genetic disorder, diagnose your current condition, and suggest the best treatment options for you. We offer a wide range of testing services to make sure we cover all your needs:

  • Diagnostic testing for people experiencing symptoms of a genetic condition
  • Presymptomatic and predictive testing to determine if you have a change of having conditions such as polycystic kidney disease (PKD)
  • Testing to find out if you carry a specific gene mutation that may be passed onto your children, such as cystic fibrosis or genetic diseases associated with people of Ashkenazi Jewish heritage

Gentic testing is now very affordable. We will work with you and your health insurance provider to determine what's covered under your plan and explain cost before testing is ordered.



We work together with you to assist in making informed healthcare decisions. Your genetic specialist is able to:

  • Help you decide if genetic testing is right for you
  • Provide more information about the condition
  • Review treatment plans
  • Assist with getting referrals to the appropriate specialists
  • Help you talk to family members about whether they should consider genetic screening
  • Connect you with resources such as support groups, local organizations and reliable online sources
  • Work with your insurance company on coverage of genetic testing
Anasuya Gunturi MD, PhD talks with patient at Lowell General Hospital's Women's Wellness Center clinic appointment.
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