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 testingĀ
- 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
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Genetic Counseling Brochure for Patients
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Genetic Counseling Brochure for Physicians
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