Genetics Services

We provide health care for adults and children with genetic diseases or suspected to have genetic diseases. We also encounter healthy individuals seeking genetic screening and counseling. In our genetics clinics we provide clinical evaluation, perform genetic tests, advise on management, and deliver genetic counseling for patients and families. Our genetic services include:

We provide evaluation for wide variety of conditions related to pregnancy and infertility including:

  • Pregnancies with fetal anomalies or growth impairment
  • Pregnancies with abnormal prenatal genetic or chromosomal tests
  • Previous pregnancies with fetal malformations or death
  • Recurrent miscarriages
  • Family history of Down syndrome and other chromosomal and genetic syndromes
  • Family history of congenital malformation, developmental delay, intellectual disability, growth failure, or other conditions that are suspected to be inherited genetic
  • Maternal diabetes or teratogen exposure
  • Male and female infertility
  • Premature ovarian failure
We also provide genetic counseling for:

  • Carriers for genetic or chromosomal disorders
  • Prenatal genetic testing
  • Preimplantation genetic testing
  • Preconception genetic screening tests
We also provide genetic counseling for patients and families and advise about prevention including:

  • Genetic counseling about genetic and metabolic diseases
  • Genetic testing and counseling for carriers of genetic diseases
  • Cancer genetic screening
  • Premarital genetic evaluation, screening, testing, and counseling
  • Preconception genetic counseling and genetic screening
  • Genetic evaluation and counseling for pre-implantation genetic diagnosis and screening (PGD/PGS)
  • Prenatal genetic evaluation, counseling, and testing (e.g. NIPT)

We evaluate affected individuals with cancers who are suspected to have familial/genetic predisposition for cancer, such as individuals with early onset tumors (e.g. breast cancer in females less than 50 years of age), multiple tumors, family history of tumors, or other tumors that are known to be caused largely by genetic defects, such as retinoblastoma and medullary thyroid carcinoma. We also see healthy people who do not have cancer, but have family history of tumors. During the genetic evaluation, detailed personal and family histories are obtained. Cancer gene panels are performed when indicated, genetic test results are interpreted, and genetic counseling is provided.

Many cardiovascular diseases encountered in adults and pediatrics can be caused by genetic defects that can be inherited. Examples include variable congenital heart diseases, different cardiomyopathies, rhythm abnormalities such as prolonged QT syndromes and Brugada syndrome, and  familial hyperlipidemias. In our genetics clinics we evaluate patients, request the needed genetic tests, and provide genetic counseling.

Many neurological diseases seen in pediatrics and adults can be caused by genetic defects. Examples include variable types of epilepsies, hereditary neuropathies, muscular dystrophies, and early-onset strokes. Variable genetic and metabolic tests are available to help in reaching the genetic diagnosis which can provide more information about the disease and its complications and inheritance, and guide in establishing the management plan.

Large number of pediatric conditions can benefit from genetic evaluation. Some of these conditions are:

  • Developmental delay and intellectual disability
  • Behavioral disorders such as autism and hyperactivity
  • Down syndrome and other chromosomal disorders and genetic syndromes
  • Failure to thrive and growth failure
  • Dysmorphic features and congenital malformation
  • Skeletal malformation
  • Inborn error of metabolism (metabolic disorders)
  • Mitochondrial disorders
  • Variable pediatric genetic/inherited neurologic, endocrine, cardiovascular, pulmonary, renal, gastrointestinal, hematologic, skeletal and dermatological diseases

Other services include:

  • Ophthalmology: some eye diseases are caused by genetic defects such as retinitis pigmentosa, congenital cataract, and high myopia
  • Hearing impairment: several genetic defects cause hereditary hearing loss
  • Dermatology: many skin conditions are due to genetic defects such as epidermolysis bullosa, café au lait spots in neurofibromatosis, congenital ichthyosis, and many others
  • Orthopedics: several bone conditions can be due to genetic defects such as congenital bone deformities, osteopenia with recurrent bone fractures, and limb defects.
  • Endocrine disorders such as monogeneic diabetes and congenital hypothyroidism
  • Respiratory disorders such as cystic fibrosis and immotile cilia syndrome

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