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.
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: 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: 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: 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
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
