Children's Genetics

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Medical Genetics Services

UMMC Medical Genetics providers are board-certified in multiple specialties. We are the experts in the selection of medical genetic testing and are specially trained to counsel on the often complex results generated by this unique testing.

Who should see a geneticist or genetic counselor?

A referral is appropriate for any individual with (but not limited to) the following:

  • Abnormal genetic testing results and/or abnormal newborn screening results
  • Birth defects
  • Neurologic and/or neuromuscular disorders
  • Developmental delay/intellectual disability
  • Autism spectrum disorders
  • Failure to thrive, short stature, or overgrowth
  • Skeletal/bone dysplasia
  • Vision loss/hearing loss
  • Inherited blood disorders
  • Inborn errors of metabolism
  • Individuals with dysmorphic features
  • Skin/dental disorders with a suspected genetic etiology
  • Certain types of cancers or a strong family history of cancer
  • Seizures

Prenatal Services

In collaboration with a pregnant woman's OB-GYN, we help interpret:

  • Abnormal genetic screening- serum, non-invasive prenatal screening (NIPS), carrier screenings
  • Fetal ultrasound abnormalities
  • Fetal chromosome abnormalities detected on chorionic villus sampling or amniocentesis
  • Infertility, recurrent miscarriage
  • Stillbirth/fetal demise pathology reviews

Clinics

In cooperation with other specialists, we coordinate or participate in clinics devoted to certain complicated conditions, including:

  • General Genetics Clinic
  • Genetic Counseling Clinic
  • Craniofacial Multidisciplinary Clinic (cleft lip and palate)
  • 22q11.2 Deletion Syndrome Clinic
  • Medical Nutrition Therapy 
  • Prenatal Clinic
  • Inpatient Consults

Genetic Screening and Testing Services We Offer:

  • Fluorescent in situ hybridization (FISH)
  • Karyotype (chromosome) analysis
  • Chromosomal microarray
  • Single-gene testing
  • Multi-gene panels
  • Whole exome sequencing (WES)
  • Non-invasive prenatal screening (NIPS)
  • Preimplantation genetic screening (PGS)
  • Carrier screening
  • Pharmacogenetic testing

We do not offer paternity testing.