Sephardi/Mizrahi Panel

In response to the growing occurrences of genetic diseases within the Sephardic community and the subsequent requests for assistance, Dor Yeshorim recently unveiled a new testing panel that screens for sixteen additional genetic diseases prevalent in Sephardic / non-Ashkenazic communities. This panel represents many years of painstaking research and development, necessary to establish reliable testing that meets Dor Yeshorim rigorous standards.

In May of 2015, HaChacham Yitzhak Yosef, shlita, the Rishon LeZion of Eretz Yisroel and Av Bet Din of the Chief Rabbinate of Israel’s Supreme Bet Din, called upon all Sephardim to be tested for genetic diseases. Following Dor Yeshorim’s groundbreaking addition of the Sephardic testing panel, Gedolei HaDor and Roshei Yeshiva from the Sephardic communities in Israel released a Kol Koreh. This announcement stated that, before getting engaged, every single Jew, regardless of whether they are of Ashkenazic or Sephardic descent, should undergo Dor Yeshorim testing.

Those who joined the Dor Yeshorim program after January of 2016 and indicated on the enrolments form that they are of Sephardic descent were automatically screened for both Ashkenazic and Sephardic panels. Those who were tested by Dor Yeshorim before this time period should call the Dor Yeshorim office to update their information. In most cases, an additional blood specimen is not needed

Dor Yeshorim continues to work tirelessly with Rabbanim and community leaders abroad to help firmly establish the Sephardic testing panel and continue protecting the futures of all Jewish communities.

Be Aware: Sephardim can also be carriers for diseases found on the Ashkenazi panel, such as Tay Sachs and Cystic Fibrosis. In addition, a Sephardi with Ashkenazic ancestry, even from a few generations back, can also be a carrier for any Ashkenazic genetic disease. It is therefore imperative that all Sephardim be screened for genetic diseases whether they will marry another Sephardi or an Ashkenazi.
A fatal metabolic dysfunction that result from the body’s inability to break down certain substances. Eventually, these substances accumulate in the cells, causing progressive damage. The disease manifest in various neurological symptoms that, after a few months, arrest the proper development of the child. Sick children rarely reach the age of five. Their lives are short, devastating, suffering-filled years for both child and family. There are no known cures or treatments. The genes for this disease are very prevalent. The Tay Sachs genetic mutation alone is present in one of every 25 Jews of Ashkenazi descent and one of every 100 Jews of North African descent.

For additional information see:
Genetic Home Reference

Cystic Fibrosis manifests itself in serious respiratory ailments as well as other health problems of varying severity. The lives of CF patients are filled with ongoing suffering and frequent, lengthy hospitalizations. Many times, CF patients require lung transplants to survive.

For additional information see:
Genetics Home Reference
Clinical and Functional Translation of CFTR
Cystic Fibrosis Foundation

This inherited disorder affects the nervous and immune systems. By the time a child reaches age five, he will develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements, muscle twitches, slurred speech and trouble moving his eyes from side to side. Children with this disease have an increased risk of developing cancer and chronic lung infections. Average life expectancy is approximately 25 years. There is no treatment known to slow the neuro-degeneration.
Ataxia Telangiectasia is found with an increased frequency among Jews from Morocco and Tunisia. Its estimated incidence is to be 1:26500, with a carrier frequency of 1/80.

Patients with Achromatopsia have poor visual acuity, photophobia, congenital nystagmus, and colorblindness. In addition, their vision in ordinary light is severely restricted.
Cystinosis, Nephropathic causes renal failure starting at the first year of life until end-stage renal failure at around age 7.
Fanconi Anemia Type A is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure and a high predisposition to cancer.
Infantile Cerebral and Cerebellar Atrophy causes postnatal progressive microcephaly and severe developmental retardation associated. At 4-9 weeks of age patients develop swallowing difficulties which lead to jitteriness, poor visual fixation, truncal arching and seizures.
Methylglutaconic Aciduria Type 3 is a neuro-ophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction and cognitive deficit.
Megalencephalic Leukoencephalopathy with subcortical cysts is a leukodystrophy characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy and mild cognitive decline.
In the late infantile form of Metachromatic Leukodystrophy, onset usually occurs in the 2nd year of life and leads to death before 5 years. Clinical features include motor difficulties, rigidity, mental deterioration and convulsions.
Myoneurogastrointestinal Encephalopathy is a progressive multisystem disorder clinically characterized by the onset of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy and mitochondrial dysfunction.
Methylenetetrahydrofolate Reductase is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.
Autoimmune Polyglandular Syndrome Type 1, usually diagnosed around age 20, is characterized by the presence of Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis. It may cause primary hypoparathyroidism, hypogonadism, adrenal insufficiency and insulin-dependent diabetes mellitus.
Usher Syndrome Type 2 is a recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). Patients with Usher Syndrome Type 2 have mild hearing impairments with normal vestibular responses.
Patients with PCCA have profound mental retardation, postnatal progressive microcephaly and spasticity.
Pontocerebellar hypoplasia is a group of conditions that affect the development of the brain and can lead to microcephaly which is usually not apparent at birth but becomes noticeable in infancy and early childhood. Babies with PCH2 cannot grasp objects, sit or walk, have problems with swallowing and cannot communicate. Many also suffer from impaired vision, stiffness and seizures. The severity of different forms of PCH varies, but many children do not survive infancy or childhood. There is no known cure.
The disease has been reported in Jewish families from Morocco and from Iraq.