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 very limited number of entities in the UAE offering patients and their family the services of a licensed, and American Board of Genetic Counseling certified, genetic counselor.

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

Physicians can refer their patient to NRL’s genetic counselorif the patient:

• has a family history of one of the below indications
• has been diagnosed with one of the below indications
• is suspected to have one of the below indications
• presents an abnormal genetic test result which they need support in understanding
• needs support in making a decision regarding reproductive prevention options
• is 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 conditions: 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
• Inherited bleeding disorders: 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 defects, cleft lip & palate

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
• If there has been 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.
• If the mother is a known/ presumed carrier of an X-linked disorder: DMD, hemophilia
• Recurrent pregnancy losses (more than 2) 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

• Cardiovascular problems: cardiomyopathy, long QT, congenital heart defects
• 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

• Genetic Counseling Brochure for Patients

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• Genetic Counseling Brochure for Physicians

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