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Genetics Testing

Genetics Testing

Our Pathology and Laboratory Department at the American Hospital Dubai provide health care for adults and children with genetic diseases or suspected to have genetic diseases. We provide clinical evaluation, perform genetic and metabolic tests, advise on management, and deliver genetic counseling for patients and families.

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.

 

A large number of cardiovascular diseases encountered in adults and pediatrics can be caused by genetic defect and many of these 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 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 evaluation in our Genetics Clinics. Some of these conditions are:

  1. Developmental delay, intellectual disability, autism, and behavioral disorders
  2. Down syndrome and other chromosomal disorders and genetic syndromes
  3. Dysmorphic features and congenital malformation
  4. Skeletal malformation and growth failure
  5. Inborn error of metabolism (metabolic disorders) and mitochondrial disorders
  6. Variable genetic/inherited neurologic, endocrine, cardiovascular, pulmonary, renal, gastrointestinal, hematologic, skeletal and dermatological diseases

In Genetics Testing we provide evaluation for wide variety of conditions related to pregnancy and infertility including:

  1. Pregnant ladies with fetal anomalies or growth impairment
  2. Pregnant ladies with abnormal prenatal genetic or chromosomal tests
  3. Previous pregnancies with miscarriages or fetal malformations or death.
  4. Family history of Down syndrome and other chromosomal and genetic syndromes
  5. Family history of congenital malformation, developmental delay, intellectual disability, growth failure, or other conditions that are suspected to be inherited genetic defect.
  6. Maternal diabetes or teratogen exposure
  7. Infertility and premature ovarian failure
  8. Genetic evaluation and counseling for pre-implantation genetic diagnosis and screening (PGD/PGS).

In our Genetic Clinic we evaluate the findings of current pregnancy and take the history of previous pregnancies. We also provide genetic counseling and advice about the appropriate prenatal genetic testing and pre-conception genetic screening.

 

We also provide genetic counseling for patients and families and advise about prevention:

  1. Genetic counseling about genetic and metabolic diseases
  2. Genetic testing and counseling for carriers of genetic diseases
  3. Cancer genetic screening
  4. Pre-marital genetic evaluation, screening, testing, and counseling
  5. Pre-conception genetic counseling and genetic screening
  6. Genetic evaluation and counseling for pre-implantation genetic diagnosis and screening (PGD/PGS)
  7. Prenatal genetic evaluation, counseling, and testing (e.g. NIPT)

Other services include:

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