Middle East Genetic Panel

Genetic disease testing for persons of Middle-Eastern heritage! Why? Because the people of Middle-East origin have distinct genetic profile. Thus, the currently available Genetic Testing panels are not as relevant to the descendants of Middle Eastern origin.

Frequently Asked Questions (FAQ)

Why bother with genetic testing?

The more we use genetic testing, the better the chances are for developing treatments for the genetic disorders that affects us most. Specific medications are currently being developed for some of these genetic disorders. Many families at risk may not be aware that they or their children could be at risk. Genetic testing and accurate genetic diagnosis will increase the chances for participating in treatment trials towards developing effective treatments that may benefit both current and future patients.

How are genetic diseases inherited?

Genetic diseases are caused by mutations in genes. Every person has more than twenty thousand genes. When one or more of our genes are abnormal (have mutations), it can cause disease. We each have two copies of most of the genes, one inherited from each parent.

What is a carrier?

A carrier is a person who has one normal copy of a gene and one abnormal copy. For some genetic diseases, having one normal gene can prevent the disease. A person with one abnormal and one normal copy of a gene is a carrier. For “autosomal recessive” disorders, carriers are usually asymptomatic. When both parents are carriers of the same abnormal gene, their children have a higher risk of becoming affected with that disease. By carrier testing, expecting parents can find out if their children may be at risk.

What if only one partner in a couple is from the Middle-East?

If only one partner in a couple has Middle-Eastern heritage, it is usual to test that person first. If he or she is found to be a carrier of one of the diseases, the other partner could then be tested. If a pregnancy is underway and time is of the essence, then it may be better to test both partners at the same time. To reliably detect carriers in people without Middle-East heritage, your doctor may recommend sequencing of the entire gene.

Are there prenatal tests for these diseases?

Yes, if both parents are carriers of the same disease, prenatal diagnosis can be performed to determine if the fetus is or is not affected.

Is there a requirement to perform the testing?

Currently, there is no requirement to perform the genetic tests to determine if you are a carrier for any of the described genetic conditions. If you do not have any symptoms, you may choose to perform the tests to discover if your children are at risk. If you have symptoms that can be caused by one or more of the conditions, your doctor may order the tests to confirm the diagnosis.

When should we consider testing?

There is no general consensus as to when is best to perform genetic testing to discover if your kids are at risk. You may consider testing before marriage, after marriage, while planning to have children, or when already expecting. Your genes, your choice.

Are the tests covered by insurance?

If you choose to test when planning children or when you are expecting, your insurance may cover some or all of the tests. Your out of pocket expense will depend on the terms of your health insurance.

How much do the tests cost?

The cost for each test in the panel may range from about $150 to $650 depending on the method and complexity of each genetic test. When paying out of pocket, we will work with you to make it as affordable as possible.

Why use our laboratory?

  • Rapid turnaround guaranteed, 2 to 14 days depending on testing complexity. We can further expedite the turnaround to meet your specific needs.
  • Buccal swab samples accepted. No need for blood draw.
  • Easy to read reports, and free phone consultation for interpretation as needed.
  • Transparent pricing, flexible billing, and discount policies based on patient income, means we can assure every patient who needs the test can afford it. Good medical care should be affordable, for everyone.

What specific genetic disorders are included in the panel?

Disease Clinical Characteristic Severity* Carrier Frequency
Wolman Disease Wolman Disease leads to a buildup of fats in the liver, spleen, and wall of the bowel and is almost always fatal in the first year of life. Infants may experience persistent vomiting, diarrhea, growth failure, liver failure, an enlarged spleen, abdominal distension, and adrenal calcification.  Wolman Disease is reported to occur in one out of every 4,200 births in the Persian Jewish community. Currently, there are no approved treatments. SBC-102, an enzyme replacement therapy, is being investigated to address Wolman Disease.  5 1/32 Persian-Jews
1/55 Middle-East
Usher Syndrome Usher Syndrome is responsible for the majority of deaf-blindness worldwide. Loss of vision and hearing often occurs by mid-adult age. There is no effective treatment yet. 4 1/25 Persian-Jews
1/50 Iraqi-Jews
Hereditary Inclusion Body Myopathy (HIBM) HIBM is the most common inherited muscle wasting disease in people of Persian (Iranian) Jewish heritage, and is expected to be more common in Iran, and perhaps the Middle East, than the rest of the world. Muscle weakness usually begins after the age of 20 years and most patients are wheelchair bound by the age of 40 years . HIBM does not seem to affect brain function or lifespan significantly. Although there are no approved treatments yet, investigational medicines for HIBM are being developed. 4 1/15 Persian-Jews
Dubin Johnson Syndrome (DJS) DJS interferes with the body's ability to move bilirubin from the liver. Onset has been observed from infancy to late adulthood, but generally occurs between ages 15-35 years. Although severely high levels of bilirubin can damage the brain and other organs, DJS generally does not shorten life span. The most common symptom is jaundice but DJS can also cause vague abdominal pains, occasional nausea, vomiting, recurrent diarrhea, and mild-moderate bleeding syndrome. Symptoms can be worsened by alcohol, birth control pills, infection or pregnancy. 3 1/20 Persian-Jews
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency G6PD deficiency leads to a blood reaction known as “hemolysis” which can occur in response to foods such as Fava beans (Favism), certain medications (e.g antimalarial drugs, aspirin, NSAIDs, Quinidine, Sulfonamides ), infection and exposure to household chemicals , such as those in mothballs. G6PD deficiency generally does not shorten life span. 1-3 1/10 Iran
1/2 Saudi
1/5 Kuwait
1/2 Kurdish-Jews
1/4 Iraqi-Jews
Thermolabile Methylenetetrahydrofolate reductase (MTHFR ) MTHFR thermolabile variant is one of the most common genetic variations worldwide. Mutations in the MTHFR gene have been linked to the buildup of homocysteine in blood (hyperhomocysteinemia). Hyperhomocysteinemia in expecting mothers is associated with neural tube defects, stillbirths, and recurrent loss of pregnancy. 1-2 1/2 Middle East

* Severity is defined from 1-5. Most severe = 5, and least severe = 1.

What are the carrier frequency and carrier detection rate?

Carrier frequency of 1/32 means that 1 in 32 random people within a specific population is likely to be a carrier for the genetic mutation being tested.

Carrier detection rate depends on which mutation(s) are being tested, and on the specific region in the Middle-East. Although accurate information is not available yet for all the diseases listed, the tested mutations for each disease listed in table are responsible for more than 90% of reported Middle-Eastern patients affected with that disease. This means when the test result is negative, the risk for having children affected by the disease is likely to be reduced by more than 90%.

How can we get tested?

Contact us today, and we can work with your current doctor or genetic counselor to make it as easy and possible to get tested. info@firmalab.com


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