Genetic Counseling

With approximately 360 reported genetic disorders in the UAE, it is important that patients and their families have access to a genetic counselor. National Reference Laboratory is one of a limited number of entities in the UAE who have made available the services of a licensed, and American Board of Genetic Counseling certified, genetic counselor in-country. For more info, please see Our Medical and Scientific Team.

NRL’s genetic counselor supports patients in a nondirective and personalized manner to help them better understand the cause, and the implications, of various genetic conditions. The counselor help facilitate informed decision-making regarding testing options, test results, prevention and life planning.

Physicians can refer patients to NRL’s genetic counselor if they:

  • have a family history of one of the below indications
  • have been diagnosed with one of the below indications
  • are suspected to have one of the below indications
  • present an abnormal genetic test result which they need support in understanding
  • need support in making a decision regarding reproductive prevention options
  • are seeking premarital or preconception counseling

INDICATIONS FOR GENETIC REFERRAL

General Adult Genetics or Pediatric Genetics

  • A chromosomal disorder: down syndrome, Edwards syndrome
  • A monogenic disorder: fragile X syndrome, Rett syndrome
  • Visual loss or a congenital eye defect: retinitis pigmentosa, microophthalmia, early-onset macular degeneration, cataracts
  • Significant hearing impairment not secondary to recurrent otitis media
  • A progressive neurologic condition: peripheral neuropathy, unexplained myopathy, progressive ataxia, early onset dementia, familial movement disorder
  • A progressive muscle weakness: muscular dystrophy, spinal muscular atrophy, myotonic dystrophy
  • Skeletal dysplasia or short stature: osteogenesis imperfect, achondroplasia
  • An unexplained intellectual disability, global developmental disorder or autism
  • Abnormal sexual maturation or delayed puberty
  • An inherited bleeding disorder: hemophilia, thrombophilia
  • An immune deficiency: SCID
  • A kidney disorder: polycystic kidney disease
  • A child with a metabolic disorder
  • An abnormal newborn screening test result
  • One or more birth defects: heart defect, cleft lip & palate etc.

Preconception Genetics or Prenatal Genetics

  • An abnormal prenatal diagnostic test result, abnormal NIPT or abnormal prenatal ultrasound examination: neural tube defects, down syndrome, trisomy 18
  • Fetal or parental exposure to potentially teratogenic, mutagenic, or carcinogenic agents: drugs, chemicals, radiation, infection
  • A positive carrier screening test result: cystic fibrosis, thalassemia, sickle cell anemia, tay-sachs etc.
  • Mother is a known/presumed carrier of an X-linked disorder: DMD, hemophilia
  • Recurrent pregnancy loss (2 or more) or multiple IUFDs
  • Infertility where either parent is suspected of having a chromosome abnormality or other genetic factors

Hereditary Cancers

  • A cancer known to be associated with specific genes or mutations: breast, ovarian, colorectal
  • A positive germline mutation revealed by family genetic testing or tumor profiling testing 
  • A compelling family history of cancer: young age at onset, bilateral lesions, familial clustering of related tumors

Cardiovascular Genetics

  • A cardiovascular disorder: cardiomyopathy, long QT, congenital heart defect
  • A vascular disorder including arterial aneurysms/dissections and connective tissue disorders: Marfan & Ehlers Danlos syndrome
  • A high level of lipids (fats, cholesterol and triglycerides) or lipoproteins circulating in the blood: hyperlipidemias, familial hypercholesterolemia

 

Download NRL's Genetic Counseling Brochure for Physicians 

 

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