Genetics and Genetic Counseling

Providing genetic information to support your health care decisions

Hackensack Meridian Children’s Health offers the Center for Genetic and Genomic Medicine, one of the largest and most advanced programs of its kind in New Jersey.
 
What sets us apart is a high-level expertise driven by innovation, research and clinical trials, seamlessly blended with a passionate, personalized approach. We build relationships with our patients and their families to support them on a sometimes difficult journey.
 
Board-certified geneticists and licensed genetic counselors see adults and children of all ages – providing education and support through the process. In addition to getting a diagnosis, individuals may seek genetic evaluation for family history, anticipatory guidance, and reproductive risk assessment

Testing and treatments

Utilizing the latest tests such as whole-exome sequencing, our team provides diagnosis and treatment of rare and inherited genetic conditions for both children and adults. These include:

• Abnormal newborn screening results
• Autism spectrum disorder
• Cardiac conditions (cardiomyopathy, channelopathy)
• Carrier testing and positive family history
• Chromosome abnormalities
• Conditions inherited from birth (congenital disorder)
• Craniofacial conditions
• Developmental delay/intellectual disability
• Dysmorphology (abnormal body structures present at birth)
• Early onset hearing loss, sensorineural hearing loss syndromes
• Hereditary cancer
• Growth conditions (short/tall stature)
• Lysosomal storage diseases
• Metabolic conditions
• Morquio syndrome
• Neurofibromatosis
• Neurodevelopmental conditions (autism, developmental delays, epilepsy)
• Seizures
• Skeletal conditions (Marfan syndrome, skeletal dysplasia)

Newborn screenings

Once a child is born, hospitals do newborn screening tests to ensure the baby is in good health. Initial blood work tests for more than 50 disorders, including sickle cell anemia, phenylketonuria (PKU) and cystic fibrosis. In addition, the infant is given a screening for hearing and congenital heart disease.
 
Our Hackensack location is one of the only designated centers for the New Jersey Department of Health newborn screening.

Gene Therapy Trials

• Gene Therapy for Sickle Cell Disease 
• Gene Therapy for Fabray Disease
• Gene Therapy for Spinal Muscular Atrophy (SMA)