Medical Genetics & Genomics

Comprehensive Care for all Ages

Albany Medical Center's Division of Medical Genetics and Genomics is a comprehensive genetic program, including pediatric and adult genetics, inborn error of metabolism/newborn screening follow-up, prenatal genetics, cancer genetics, and pharmacogenetics.

Our adult and pediatric clinical geneticists and genetics counselors work together with doctors and nurses to determine the best treatment plans and options.

The program provides genetic diagnosis and recommendations for management of related genetic disorders, treatment (i.e., enzyme replacement therapy, gene therapy) and genetic counseling (i.e., family history and analysis, recurrence risk, noninvasive and invasive prenatal diagnosis, pre-implantation genetic diagnosis), birth defects, developmental delays, and developmental disabilities.

To make an appointment at Albany Medical Center, call 518-262-5120.

  • Abnormal fetal ultrasound assessment
  • Advanced maternal age
  • Carrier screening
  • Family history of genetic disorders, birth defects, developmental delay, intellectual disability, learning disability, metabolic disorders, sudden infant death syndrome
  • Infertility
  • Multiple miscarriages
  • Personal history of genetic disorders or birth defects
  • Positive expanded alpha-fetoprotein (AFP) screen
  • Positive noninvasive prenatal test and screen
  • Parental history of children with birth defects, genetic disorders, sudden infant death syndrome
  • Abnormal growth (intrauterine growth restriction, small for gestational age, macrosomia)
  • Abnormal newborn screening follow-up/verify positive newborn screening results
  • Birth defects and congenital anomalies (central nervous system, heart, lungs, gastrointestinal, genitourinary, and skin)
  • Congenital hypotonia, hypertonia, myotonia
  • Dysmorphic features (craniofacial or body)
  • Suspected genetic disorders (cystic fibrosis, chromosomal)
  • Abnormal growth (short/tall stature, connective tissue disorders, skeletal dysplasia, macrosomia, hemihypertrophy, hemihypotrophy, and hemiatrophy)
  • Behavioral disorders, autistic behavior, autism spectrum disorders
  • Cardiovascular and cardiopulmonary anomalies, cardiac rhythm disorders, cardiomyopathy
  • Central nervous system and neurologic disorders (abnormal brain MRI/seizures-epilepsy
  • Congenital anomalies (skull, head, face, ears, eyes, nose and mouth)
  • Delayed developmental milestones/developmental delay
  • Dysmorphic features (craniofacial/body)
  • Family history of birth defects, genetic disorders, intellectual disabilities and learning disabilities
  • Hearing loss or deafness
  • Immunodeficiency and immune problems
  • Intellectual disability (learning disability)
  • Metabolic issues or disorders, lysosomal storage disorders
  • Muscle weakness, hypotonia and spasticity
  • Neurologic conditions associated with genetic disposition, neurogenetics
  • Pediatric cancer
  • Severe vision impairment, congenital blindness
  • Skin lesions (café au lait spots, hyper and hypopigmentation, nodules)
  • Abnormal growth
  • Behavioral disorders, autistic behavior, autism spectrum disorders
  • Cardiovascular anomalies, cardiac rhythm disorders, cardiomyopathy
  • Central nervous system, neurologic disorders, seizures-epilepsy
  • Dysmorphic features (craniofacial or body)
  • Family history of birth defects, genetic disorders, intellectual disability, and learning disability
  • Hearing loss or deafness
  • Immunodeficiency or immune problems
  • Learning disability
  • Macrosomia
  • Metabolic issues or disorders – late onset
  • Neuromuscular disorders – late onset (i.e., Huntington disease, Alzheimer’s disease)
  • Obesity (not diet-related)
  • Personal and family history of cancer
  • Severe vision impairment
  • Skin lesions (café au lait spots, hyper and hypopigmentation,nodules)