Testing Panels

Prevalent by: Iranian Jews.

Gene: CNGA3

Mutations: p.G557R, p.V529M

Carrier Frequency:  1 of 100 

Achromatopsia is a condition characterized by partial or total absence of color vision. In some cases, it also involves increased sensitivity to light (photophobia), involuntary eye movements (nystagmus), and significantly reduced sharpness of vision (low visual acuity). Affected individuals can also have farsightedness (hyperopia) or, less commonly, nearsightedness (myopia). These vision problems develop in the first few months of life.

Prevalent by: Ashkenazi Jews.

Gene: SAMHD1

Mutations: exon1del

Carrier Frequency: 1 of 132 

AGS is a disorder that mainly affects the brain, the immune system, and the skin. Within the first year of life, most individuals with AGS experience an episode of severe brain dysfunction (encephalopathy), typically lasting for several months. During this phase, affected babies are usually extremely irritable and do not feed well. They stop developing and begin regressing. Growth of the brain and skull slows down, resulting in a small head size (microcephaly). The encephalopathic phase causes permanent neurological damage that is usually severe. Individuals with AGS have profound intellectual disability, muscle stiffness (spasticity); involuntary tensing of various muscles (dystonia), especially those in the arms; and weak muscle tone (hypotonia) in the torso. Some people with AGS have a skin problem called chilblains. Chilblains are painful, itchy skin lesions that are puffy and red, and usually appear on the fingers, toes, and ears. Vision problems, joint stiffness, and mouth ulcers are other features of this disorder.

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

Ataxia-telangiectasia is a disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the skin’s surface, are also characteristic of this disorder. People with ataxia-telangiectasia often have a weakened immune system, and many develop chronic lung infections. They also have an increased risk of developing cancer, particularly cancer of blood-forming cells (leukemia) and cancer of immune system cells (lymphoma).

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

Bardet-Biedl syndrome type 2 is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals. Vision loss is one of the major features of BBS2. Difficulty with night vision becomes apparent by mid-childhood. Over time, the vision worsens, and most people with BBS become legally blind by adolescence or early adulthood. Other signs and symptoms may include Obesity which typically begins in early childhood, the presence of
extra fingers or toes (polydactyly), intellectual disability, and kidney abnormalities; which can be serious or life-threatening. Dor Yeshorim’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 a genetic disorder characterized by severe pre- and postnatal growth deficiency, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Affected males tend to be infertile, affected females may be fertile but often have early menopause. Individuals with Bloom syndrome have distinct facial features. Other medical complications may include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), mild immune system abnormalities leading to recurrent infections of the upper respiratory tract, ears, and lungs during infancy.

Prevalent by: Ashkenazi Jews.

Gene: ASPA

Mutations: p.C693A, p.A854E

Carrier Frequency: 1 of 55

Canavan disease is a type of leukodystrophy characterized by neurodevelopmental delays, and other abnormalities. The phenotypic spectrum ranges from the more severe typical Canavan disease to the less severe atypical Canavan disease. The typical Canavan disease AKA Neonatal/infantile Canavan disease is the most common and most severe form of the condition. Affected infants appear normal for the first few months of life, but by age 3 to 5 months, problems with development become noticeable. These infants usually do not develop motor skills such as turning over, controlling head movement, and sitting without support. Other common features of this condition include weak muscle tone (hypotonia), an unusually large head size (macrocephaly), visual impairment, and irritability. Feeding and swallowing difficulties, seizures, and sleep disturbances may also develop. Most children with typical Canavan disease die in the first two decades.

Prevalent by: Syrian Jews.

Gene: CYP11B1

Mutation: p.A331V

Carrier Frequency:  1 of 59

11-beta-hydroxylase deficiency (not to confuse with 21 hydroxylase deficiency common by Ashkenazim) is a subtype of congenital adrenal hyperplasia that affects the adrenal glands. There are two types of 11-beta-hydroxylase deficiency, the classic form, and the non-classic form. The classic form is the more severe form. Females with the classic form have external genitalia that do not look clearly male or female (atypical genitalia). However, the internal reproductive organs develop normally. Males and females with the classic form of this condition have significant advanced bone ages, and early puberty development such as growth of facial and pubic hair, deepening of the voice, and onset of a growth spurt. The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. Untreated boys may have aggressive behavior. A common mutation in the Syria and Moroccan Jews population causes the severe form of the disorder.

Prevalent by:  Ashkenazi and Moroccan Jews.

Gene: GDF1

Mutation: p.M364T

Carrier Frequency:  Ashkenazim 1 of 45 Moroccans 1 of 75

GDF1-related heart conditions are a group of different heart conditions caused by a mutation in the GDF1 gene. All patients with this condition have conotruncal cardiac defects and heterotaxy, with diagnoses that include TOF, TGA, DORV, TAPVR, pulmonary stenosis or atresia, left superior vena cava to coronary sinus, coronary artery anomalies, right aortic arch, left ventricular outflow tract obstruction, hypoplastic left or right ventricle, and single ventricle. Many of these heart conditions are life-threatening if left untreated, and repair often requires open heart surgery soon after birth.

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 is characterized by the buildup of thick, sticky mucus that can damage many of the body’s organs. The disorder’s most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The respiratory issues are caused by abnormal mucus that clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. The digestive system problems is caused by abnormal mucus that damages the pancreas, impairing its ability to produce insulin and digestive enzymes. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD). Men with CBAVD are unable to father children (infertile) unless they undergo fertility treatment. The features of the disorder and their severity varies among affected individuals.

Prevalent by: Moroccan Jews.

Gene: CTNS

Mutation: p.G339R

Carrier Frequency:  1 of 107

Cystinosis is a condition characterized by accumulation of the amino acid cystine within cells. There are three distinct types of cystinosis. The most severe one is called Nephropathic cystinosis which begins in infancy and is causing a particular type of kidney damage called renal Fanconi syndrome. The kidney problems lead to impaired growth and may result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. Untreated children will experience complete kidney failure by about the age of 10. By about the age of 2, cystine crystals may be present in the clear covering of the eye (cornea). The buildup of these crystals in the eye causes pain and an increased sensitivity to light (photophobia). Untreated children will experience complete kidney failure by about the age of 10. Other signs and symptoms that may occur in untreated people, especially after adolescence, include muscle deterioration, blindness, inability to swallow, diabetes, thyroid and nervous system problems, and an inability to father children (infertility) in affected men. A founder mutation in the Moroccan Jewish population is responsible for Nephropathic cystinosis

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

Dihydrolipoamide dehydrogenase (DLD) deficiency is a metabolic disorder that can vary in age of onset, symptoms, and severity. In severe cases the condition is characterized by lactic acidosis shortly after birth; hypotonia and lethargy in infancy; feeding difficulties; seizures; developmental delay, and various other severe health issues. Many infants with the severe type do not survive the first few years of life. Affected individuals who do survive often have delayed growth and severe neurological problems. In milder cases, liver disease is the primary symptom. Liver problems can begin anytime from infancy to adulthood and are usually associated with recurrent vomiting and abdominal pain. Typically, the signs and symptoms of DLD occur in episodes that may be triggered by fever, injury, or other stresses on the body. Affected individuals are usually symptom-free between episodes.

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

Congenital hyperinsulinism (CHI) AKA Familial Hyperinsulinism, is a condition that causes individuals to have abnormally high levels of insulin. People with this condition have frequent episodes of low blood glucose (hypoglycemia). The severity of CHI varies widely among affected individuals, even among members of the same family. About 60 percent of infants with this condition experience a hypoglycemic episode within the first month of life. Other affected children develop hypoglycemia by early childhood. In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, or difficulty feeding. Repeated episodes of low blood glucose increase the risk for serious complications such as breathing difficulties, seizures, intellectual disability, vision loss, brain damage, and coma.

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: 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

Hypomyelinating leukodystrophy-13 is a rare autosomal recessive neurodegenerative disorder. The disease is characterized by infantile onset of delayed psychomotor development, failure to thrive, abnormal low muscle tone (axial hypotonia) muscle tightness (spasticity), global developmental delay, and postnatal progressive microcephaly. Other variable deficits include visual impairment due to optic atrophy, seizures., and nystagmus. Most patients are unable to achieve independent walking or speech. Some patients may experience cardiac failure during acute illness that could lead to sudden death.

Prevalent by: Iranian Jews.

Gene: GNE

Mutation: p.M712T

Carrier Frequency:   1 of 16

GNE myopathy is a condition that primarily affects skeletal muscles. This disorder causes muscle weakness that appears in late adolescence or early adulthood and worsens over time. The first sign of GNE myopathy is often difficulty lifting the front part of the foot (foot drop). As the disorder progresses, weakness also develops in the muscles of the upper legs, hips, shoulders, and hands. Weakness in leg muscles makes walking increasingly difficult, and most people with GNE myopathy require wheelchair assistance within 20 years after the signs and symptoms of the disorder appear. A single mutation in the GNE gene is a common cause of GNE myopathy in Iranian and Syrian Jews.

Prevalent by: Syrian Jews.

Gene: NDUFS4

Mutation: p.D119H

Carrier Frequency:  1 of 119

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: DDX11

Mutation: c.1763-1G>C

Carrier Frequency: 1 of 64

Prevalent by: Iranian Jews.

Gene: LIPA

Mutation: p.G87V

Carrier Frequency: 1 of 103