Testing Panels

What We Test For

The Dor Yeshorim program was created with extreme care under the guidance and support of leading rabbinical authorities and medical professionals. Every policy in place and every disease that we screen for is carefully evaluated and scrutinized. Results are never divulged. This is one of the fundamentals of Dor Yeshorim and what separates us from other genetic testing organizations.


Our policy is that we will only test for diseases that present serious health issues and for which there is no cure. Rather than being an organization that is here solely to test for a long list of disease, we recognize that we are an integral part of the matchmaking process for Jewish people across the globe; a weighty responsibility indeed. Dor Yeshorim only tests for recessive diseases where pain and suffering is avoidable. This is because recessive diseases can only be passed to a child when both parents are carriers.

Dor Yeshorim’s panel of tests therefore currently screens for debilitating and recessive genetic diseases most commonly occurring within the Jewish community. These specific tests have been painstakingly researched and chosen based on their frequency and severity of symptoms. The decision to add a disease to the Dor Yeshorim panel of tests is not a simple one. We are forever mindful of our mission to ensure healthy families. At the same time, we must employ a balanced approach to adding a test to the panel; just because a test exists for the disease, does not mean it warrants screening.

Our goal is to make matches, not break them. We work closely with scientists and our rabbinical board to make sure the tests we conduct are all in our community’s best interests.

Thanks to new testing technology, the “Standard Panel” has been updated and is now available for all new DY participants.

Prevalent by: Ashkenazi Jews.


Gene: SAMHD1


Mutations: exon1del


Carrier Frequency: 1 of 132 

Prevalent by: Moroccan, Algerian, and Yemenite Jews.


Gene: ATM


Mutation: p.R35X


Carrier Frequency: Moroccans 1 of 91 Algerians 1 of 56 Yemenites 1 of 104


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.

Prevalent by: Iranian, Iraqi, Bucharian, Uzbekistan Jews.


Gene: AIRE


Mutation: p.Y85C


Carrier Frequency: Iranians 1 of 27 Iraqis 1 of 44 Bucharians 1 of 63 Uzbekistanis 1 of 153


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.

Prevalent by: Indian Jews.


Gene: TBCD


Mutation: p.A475T


Carrier Frequency:  1 of 10


 

Prevalent by: Ashkenazi Jews.


Gene: BBS2


Mutations: p.D104A, p.R632P


Carrier Frequency:  1 of 200


BBS2 is an autosomal recessive disorder characterized by mild to moderate mental retardation, pigmentation of the retina with progressive deterioration of vision, kidney failure, obesity, limb malfunction and extra digits on the hands and/or feet. While it was originally believed to be found only in the Bedouin population, DY’s efforts have enabled the detection of two BBS2-causing mutations in the Ashkenazi community.

 

Prevalent by: Ashkenazi Jews.


Gene: BLM


Mutation: p.Y736Lfs


Carrier Frequency:  1 of 103


Bloom Syndrome is typified by dwarfism, a tendency towards malignant tumors, chromosomal instability, hyper-sensitivity to sunlight and more. Many Bloom Syndrome patients suffer from mental retardation as well. The disease is more common among Jews of Ashkenazi descent than the general population.

Prevalent by: Ashkenazi Jews.


Gene: ASPA


Mutations: p.C693A, p.A854E


Carrier Frequency: 1 of 55


A fatal metabolic dysfunction that results 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.

Prevalent by: Syrian Jews.


Gene: CYP11B1


Mutation: p.A331V


Carrier Frequency:  1 of 59

 

 

Prevalent by:  Ashkenazi and Moroccan Jews.


Gene: GDF1


Mutation: p.M364T


Carrier Frequency:  Ashkenazim 1 of 45 Moroccans 1 of 75

Prevalent by: All Jewish Groups.


Gene: CFTR
Mutations: p.D1152H, p.W1282X, p.N1303K, c.1717-1G>A, c.3849+10KBC>T, p.F508del *, p.G542X, p.I1234V, c.2751+1insT ,p.W1089X, p.Y1092X, c.3121-1G>A, p.S549R, c.405+1G>A
Carrier Frequency: Ashkenazim 1 of 24 Sephardim - Mizrachim 1 of 52
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.
Research and development on this mutation was generously sponsored by Mr. and Mrs. Benzion Friedman, Toronto Ontatrio, in loving memory of Rochel Bas Yitzchok Yeshaya A”H.

Prevalent by: Moroccan Jews.


Gene: CTNS


Mutation: p.G339R


Carrier Frequency:  1 of 107


Cystinosis, Nephropathic causes renal failure starting at the first year of life until end-stage renal failure at around age 7.

 

Prevalent by: Ashkenazi Jews.


Gene: DLD


Mutation: p.G229C, p.Y35X


Carrier Frequency:  1 of 65


DLDD- also known as Maple Syrup Urine Disease Type 3 and E3 deficiency, is an autosomal recessive metabolic disorder in which protein cannot be properly metabolized. This causes accumulation of toxic byproducts. Symptoms include recurrent vomiting, episodes of abdominal pain and changes in consciousness, an enlarged liver, and neurological complications. DY has encountered several incidences of this disease in Ashkenazic Jewish families.

Prevalent by: Ashkenazi Jews.


Gene: IKBKAP


Mutations: c.2507+6T>C, p.R696P


Carrier Frequency:   1 of 26


FD mainly affects the central nervous system, which is responsible for many of the body’s systems, such as blood-pressure stabilization, motor function, sensory nervous system and the ability to swallow and perspire, among other functions. Patients affected by FD are typically recognized by “tearless crying”. FD patients often experience low sensitivity to pain which puts them in danger of fractures, wounds and burns. As the disease progresses, the digestive, respiratory skeletal, and circulatory systems are often affected as well. Familial Dysautonomia is incurable. Dor Yeshorim was actually a part of the successful effort to identify the genetic mutations that cause the disease and the establishment of genetic tests to detect it.

Prevalent by: Ashkenazi Jews.


Gene: ABCC8


Mutations: p.F1387del, c.3989-9G>A


Carrier Frequency:   1 of 58


Please note:

The compatibility results for this disease only covers for the diffuse type of familial hyperinsulinemia, and not for the focal type of this disease.

Prevalent by: Moroccan Jews.


Gene: FANCA


Mutations: c.2172_2173insG, c.4275delT, c.890del4


Carrier Frequency:   1 of 69


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.

 

Prevalent by: Ashkenazi Jews.


Gene: FANCC


Mutation: IVS4+4


Carrier Frequency:   1 of 85


Fanconi Anemia manifests itself in severe anemia, congenital defects in the extremities and a tendency towards cancer and leukemia. In some patients the disease causes mental retardation and dwarfism. The treatment entails frequent blood transfusions and patients’ lives are filled with anguish. The only possible way to cure the disease is by transplantation of bone marrow or umbilical cord blood stem cells.

 

 

Prevalent by: Ashkenazi Jews.


Gene: G6PC


Mutation: p.R83C


Carrier Frequency:  1 of 68


Patients with this disease lack the ability to break down glycogen (sugar). This results in complicated diabetes and severe digestive disturbances. Glycogen Storage frequently leads to liver tumors and can be fatal.

Prevalent by: Uzbekistani and Bucharian Jews.


Gene: TECPR2


Mutation: c.3416delT


Carrier Frequency: Uzbekistanis – 1 of 22 Bucharis – 1 of 40


 

Prevalent by: Ashkenazi Jews.


Gene: VPS11


Mutation: p.C846G


Carrier Frequency:   1 of 120


 

Prevalent by: Ashkenazi Jews.


Gene: C11orf73


Mutation: p.V54L


Carrier Frequency:   1 of 179


 

Prevalent by: Iranian Jews.


Gene: GNE


Mutation: p.M712T


Carrier Frequency:   1 of 16


 

Prevalent by: Caucasus Jews.


Gene: MED17


Mutation: p.L371P


Carrier Frequency:  1 of 20


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.

Prevalent by: Ashkenazi Jews.


Gene: TMEM216


Mutation: p.R12L


Carrier Frequency:  1 of 95


JBTS is an autosomal recessive disorder characterized by a distinctive brain malformation visible on MRI examination, low muscle tone, abnormal breathing pattern, and developmental delay. Additional features may include abnormal eye movement, abnormal gait, mental retardation, vision problems, extra fingers and/ or toes, and kidney disease. DY played a significant role in this gene discovery after several families sought DY’s assistance.

Prevalent by: Syrian Jews.


Gene: NDUFS4


Mutation: p.D119H


Carrier Frequency:  1 of 119


Prevalent by: Ashkenazi Jews.


Gene: BCKDHB


Mutation: p.R183P


Carrier Frequency:  1 of 266


MSUD1B is an autosomal recessive disorder of amino acid metabolism which usually presents at or several days after birth. From early infancy, symptoms include poor feeding, vomiting, dehydration, lethargy, hypotonia, seizures, irregular breathing, decreased level of consciousness, and neurological decline. DY encountered several incidences of this disease in Ashkenazic Jewish families.

 

Prevalent by: Ethiopian and Yemenite Jews.


Gene: TCTN2


Mutation: c.1506-2A>G


Carrier Frequency: Ethiopians – 1 of 40 Yemenis – 1 of 62

Prevalent by: Lybian Jews.


Gene: MLC1


Mutation: p.G59E


Carrier Frequency:  1 of 74


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.

Prevalent by: Bucharian Jews.


Gene: CRADD


Mutation: c.52_59del


Carrier Frequency:  1 of 30


Prevalent by: Syrian and Yemenite Jews.


Gene: ARSA


Mutation: p.P377L


Carrier Frequency: Syrians 1 of 54 Yemenis 1 of 63


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.

Prevalent by: Iraqi Jews.


Gene: OPA3


Mutation: c.143-1G>C


Carrier Frequency:  1 of 30


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.

Prevalent by: Caucasus Jews.


Gene: NDUFS6


Mutation: p.C115Y


Carrier Frequency:  1 of 20


Prevalent by: Iranian Jews.


Gene: TYMP


Mutation: p.G145R


Carrier Frequency: 1 of 73 


Prevalent by: Ashkenazi Jews.


Gene: MCOLN1


Mutation: IVS3-2A>G, c.-1015_789del


Carrier Frequency:  1 of 93


Mucolipidosis is a severe degenerative disease of the brain that hampers neurological and motor development and causes blindness. The symptoms appear before age one. Some patients reach adulthood, but never develop beyond the level of a 12-18 month old.

Prevalent by: Ashkenazi Jews.


Gene: NEB


Mutation: p.R2478_D2512del


Carrier Frequency:  1 of 110


NM is an autosomal recessive neuromuscular disorder characterized by muscle weakness, especially in the face, neck and limbs, low muscle tone, and depressed or absent tendon reflexes. The disease usually presents in infancy, and muscle biopsies reveal the presence of nemaline bodies. DY found the Ashkenazic Jewish mutation after several families sought assistance.

Prevalent by: Ashkenazi Jews.


Gene: SMPD1


Mutations: p.L304P, p.F333Sfs, p.R498L


Carrier Frequency:  1 of 227


A fatal metabolic dysfunction that results 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.

Prevalent by: Ashkenazi Jews.


Gene: PKHD1


Mutation: p.A1254Gfs


Carrier Frequency:  1 of 108

Prevalent by: Ashkenazi Jews.


Gene: VRK1


Mutations: p.R358X


Carrier Frequency:  1 of 256


Prevalent by: Moroccan Jews.


Gene: SEPSECS


Mutations: p.A239T, p.Y334C


Carrier Frequency:  1 of 68

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.


Prevalent by: Iranian and Moroccan Jews.


Gene: VPS53


Mutation: c.1556+5G>A, c.2084A>G


Carrier Frequency: Iranians 1 of 49 Moroccans 1 of 96


 

Prevalent by: Syrian Jews.


Gene: ESCO2


Mutation: c.1674-2A>G


Carrier Frequency: 1 of 198


 

Prevalent by: Bucharian Jews.


Gene: MTHFR


Mutation: c.474A>T


Carrier Frequency: 1 of 26


Methylenetetrahydrofolate Reductase is a common inborn error of folate metabolism. The phenotypic spectrum ranges from severe neurologic deterioration and early death to asymptomatic adults.

Prevalent by: Ashkenazi Jews.


Gene: SLC1A4


Mutation: p.E256K


Carrier Frequency: 1 of 122


 

Prevalent by:  Ashkenazi and Moroccan Jews.


Gene: DHCR7


Mutation: c.964-1G>C


Carrier Frequency: Ashkenazim 1 of 43 Moroccans 1 of 114 


Prevalent by: All Jewish Groups.


Gene: SMN1


Mutation: exon7del


Carrier Frequency: Sephardim 1 of 40 Ashkenazim 1 of 60.


Prevalent by: Ashkenazi, Moroccan and Uzbekistani Jews.


Gene: HEXA


Mutations: c.1277ins4, c.1421+1G>C, p.G269S, p.R170Q, p.R170W, p.F304/305del, IVS5-2A>G


Carrier Frequency: Ashkenazim 1 of 25, Moroccans 1 of 108, Uzbekistanis it’s 1 of 241.


A fatal metabolic dysfunction that results 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 is very prevalent. The Tay Sachs genetic mutation is present in one of every 25 Jews of Ashkenazi descent and one of every 100 Jews of North African descent.

Prevalent by: Iranian Jews.


Gene: CNGA3


Mutations: p.G557R, p.V529M


Carrier Frequency:  1 of 100 


Patients with Achromatopsia have poor visual acuity, photophobia, congenital nystagmus, and colorblindness. In addition, their vision in ordinary light is severely restricted.

 

Prevalent by: Syrian Jews.


Gene: CNGB3


Mutations: p.S156F, p.T383I


Carrier Frequency:  1 of 45


Patients with Achromatopsia have poor visual acuity, photophobia, congenital nystagmus, and colorblindness. In addition, their vision in ordinary light is severely restricted.

Prevalent by: Syrian Jews.


Gene: COL6A2


Mutation: p.R468X


Carrier Frequency: 1 of 22

 

Prevalent by:  Ashkenazi Jews.


Gene: EPG5


Mutations: p.Q336R


Carrier Frequency: 1 of 230

Prevalent by: Ashkenazi Jews.


Gene: FKTN


Mutation: c.1167insA


Carrier Frequency: 1 of 60


WWS is an autosomal recessive disorder characterized by muscular weakness present at birth, along with severe brain and eye abnormalities. The surface of the brain is abnormally smooth (lissencephaly), the cerebellum and brainstem are underdeveloped, and most infants have water on the brain (hydrocephalus). Congenital cataracts and retina malformations are usually also present. Severe developmental delay ensues, and most affected children die in early childhood. Upon encountering several incidences of this disease in Ashkenazic Jewish families, DY determined that this disease occurs in the Ashkenazi community at a higher frequency than initially believed.

 

Prevalent by: Ashkenazi Jews.


Gene: DDX11


Mutation: c.1763-1G>C


Carrier Frequency: 1 of 64

 

 

Research and development on this disease was sponsored by the generous parents of Eitan Hillel Z"L ben Mishael v'Chanah Esther 'שיחי in blessed memory of their beloved son.
Prevalent by: Iranian Jews.
Gene: LIPA
Mutation: p.G87V
Carrier Frequency: 1 of 103

Dor Yeshorim has updated the diseases tested for on the Standard Panel as of July 1, 2022. To view the complete list of diseases tested before July 1, 2022, Please contact the Dor Yeshorim office.

Please note:

If you have a concern regarding a specific disease like family history, please contact our research department with more information to ensure that you are covered for the genetic mutation that was found in your family.

Highly Recommended 

Intended to reduce the risk of recessive genetic inherited hearing loss.
Thanks to new testing technology, the “Hearing Loss Panel” has been updated and is now available for all new DY participants.

Prevalent by: All Jewish groups.


Gene: GJB2


Mutations: c.167delT, c.35delG, p.L90P, c.51del12insA


Carrier Frequency: Ashkenazim - 1 in 20 Moroccans and Syrians - 1 in 150

Prevalent by: Ashkenazi Jews.


Gene: GJB6


Mutation: 309kb-del


Carrier Frequency: 1 in 141

Prevalent by: Ashkenazi Jews.


Gene: LOXHD1


Mutation: p.R1572


Carrier Frequency: 1 in 140.

Prevalent by: Ashkenazi Jews.


Gene: MPZL2


Mutation: c.72delA


Carrier Frequency: 1 in 132

Prevalent by: Iranian, Ashkenazi, and Moroccan Jews.


Gene: MYO15A


Mutations: p.Y2684H, p.G3287G, p.D2823N, p.V1400M


Carrier Frequency: Iranians – 1 of 37 Ashkenazim – 1 of 73 Moroccans – 1 of 110 Iraqis – 1 of 179


Prevalent by: Syrian and Ashkenazi Jews.


Gene: OTOF


Mutations: p.V1778F, c.5193_1G>A, c.4227+1G>T


Carrier Frequency: Syrians - 1 in 20 Ashkenazim - 1 in 101

Prevalent by: Ashkenazi Jews.


Gene: OTOG


Mutation: p.Q834X


Carrier Frequency:  1 in 446

Prevalent by: Ashkenazi Jews.


Gene: OTOGL


Mutation: p.L316FfsX5


Carrier Frequency: 1 in 100

Prevalent by: Ashkenazi Jews.


Gene: PEX26


Mutation: p.F51L


Carrier Frequency:  1 in 554

Prevalent by: Ashkenazi Jews.


Gene: SPATA5L1


Mutations: p.G176V, p.I466M


Carrier Frequency: 1 in 100

Prevalent by:All Jewish groups.


Gene: STRC


Mutations: exon19del, p.R1391G, p.C527X, p.F1614V


Carrier Frequency:  1 in 47

Prevalent by: Moroccan, and Syrian Jews.


Gene: TMC1


Mutations: p.S647P, p.R604X


Carrier Frequency: Moroccans - 1 in 28 Syrians - 1 in 178

Prevalent by: Ashkenazi Jews.


Gene: TMPRSS3


Mutation: p.R109W


Carrier Frequency: 1 in 150

Prevalent by: Ashkenazi Jews.


Gene: SLC26A4


Mutations: p.L117F, p.V570I


Carrier Frequency:  1 in 76

Prevalent by: Ashkenazi Jews.


Gene: LARS2


Mutation: p.E60D


Carrier Frequency: 1 in 173

Prevalent by: Ashkenazi Jews.


Gene: PCDH15


Mutation: p.R245X


Carrier Frequency: 1 in 129

Prevalent by:  Moroccan and Algerian Jews.


Gene: MYO7A


Mutation: p.A826T 


Carrier Frequency: 1 in 72

Prevalent by: Ashkenazi Jews.


Gene: USH1C


Mutation: p.R80P 


Carrier Frequency: 1 in 231

Prevalent by: Bucharian Jews.


Gene: USH1G


Mutation: p.D458V


Carrier Frequency:  1 in 213

Prevalent by: Iraqi and Iranian Jews.


Gene: USH2A


Mutation: p.C239ins4


Carrier Frequency: Iraqi - 1 in 62. Iranian  - 1 in 139

Prevalent by: Ashkenazi Jews.


Gene: ADGRV1 (GPR98)


Mutation: c.14973_2A>G


Carrier Frequency:  1 in 325

Prevalent by: Ashkenazi Jews.


Gene: CLRN1


Mutation: p.N48K


Carrier Frequency:  1 in 112

* By special request.

Please note:

If you have a specific concern regarding hearing loss like a family history, please contact our research department with more information
to ensure that you are covered for the genetic mutation that causes the hearing loss in your family

This panel offers screening for 50 mild and/or newly discovered genetic diseases.
Please call our office at 718-384-6060.