Table 2.
The national population carrier screening for reproductive purposes.
1. Genetic screening among Jews |
Cystic fibrosis |
Fragile X |
SMA |
Screening limited to Jews from a specific origin |
Ashkenazi Jews |
Tay Sachs, familial dysautonomia |
Canavan disease |
North African Jews |
Thalassemia, Tay Sachs |
Jews from Morocco |
Progressive cerebello cerebro atrophy |
Jews from Yemen |
Metachromatic leukodystrophy (MLD) |
Jews from Iraq |
Thalassemia, MGA3. |
Progressive cerebello cerebro atrophy |
Jews from the Mediterannean region, Kurdistan, Iran or Asiatic countries from the former USSR |
Thalassemia |
Jews for the Balkan |
Familial dysautonomia |
Jews for the Caucasus |
Infantile cerebral cerebellar atrophy (ICCA) |
2. Genetic screening among Christian Arabs |
Cystic fibrosis |
Fragile X |
SMA |
Thalassemia |
Cockayne syndrome |
Albinism |
Screening limited to Christians Arabs in a specific locality |
Ataxia telangiectasia |
Sandhoff |
3. Genetic screening among Muslim Arabs (not including the Bedouins) |
Cystic fibrosis |
Fragile X |
SMA |
Thalassemia |
Screening limited to the Muslim Arabs in a specific locality |
Ataxia telangiectasia |
Bartter and Gitelman syndrome |
Biotinidase deficiency |
Cerebral dysgenesis, neuropathy, ichthyosis and keratodermia (CEDNIK) |
Cockayne/XP |
Complex hereditary spastic paraparesis |
Congenital insensitivity to pain with anhidrosis |
Congenital nephrotic syndrome |
Congenital thyroid hormone and glucocorticoid deficiency |
Epidermolysis bullosa |
Factor 7 deficiency |
Glutaric aciduria type II |
Gray platelet syndrome |
HGM |
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis (HUPRA) |
Hyperoxaluria |
Hypoparathyroidism, retardation, dysmorphism |
Hypophosphatasia |
Infantile bilateral striatal necrosis (IBSN) |
Krabbe disease |
Leber amaurosis |
Limb girdle muscular dystrophy |
Mental retardation, non syndromic |
Mitochondrial DNA depletion syndrome |
Molybdenum cofactor deficiency |
Non ketotic hyperglycinemia |
Pelizaeus-Merzbacher like disease |
POC1A deficiency |
Pompe disease |
Pseudo rheumatoid dysplasia |
Pycnodysostosis |
Retinitis pigmentosa |
Rickets, 1,25 dehydroxy vitamin D3 resistant |
Severe combined immune deficiency |
Smith Lemli Opitz |
Spinal muscular dystrophy-related disease |
Stuve Wiedemann |
Ventricular tachycardia |
Wilson disease |
Wolman disease |
4. Genetic screening among the Negev Bedouins |
SMA |
Hypoparathyroidism, retardation, dysmorphism |
Congenital insensitivity to pain |
Screening according to the tribe |
Arthrogryposis |
Ataxia telangiectasia Bardet Biedl syndrome |
Bartter syndrome |
Cardiomyopathy dilated, neonatal isolated |
Carmi syndrome-Epidermolysis bullosa, pyloric stenosis |
Carnitine-acylcarnitine translocase deficiency |
Complex III deficiency, mitochondrial respiratory chain |
Cornelia de Lange like (Birk Flusser) syndrome |
Cystinuria + (2p16 del) syndrome |
Cystic fibrosis |
Desmosterolosis |
Glycogen storage disease |
Growth hormone deficiency |
Hemolytic uremic syndrome (Complement H factor 1 deficiency) |
Infantile bilateral striatal necrosis (IBSN) |
Infantile neuroaxonal dystrophy (INAD) |
Infantile sialic acid storage disease (ISSD) |
Leber's congenital amaurosis |
Maple syrup urine disease (MSUD) |
Nephronophthisis |
Niemann Pick type C |
Non ketotic hyperglycinemia |
Osteogenesis imperfecta |
Osteopetrosis |
Pelizaeus-Merzbacher-like syndrome |
Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) |
Pyruvate dehydrogenase deficiency (PLD) |
Thalassemia |
5. Genetic screening among the Druze |
Cystic fibrosis |
Fragile X |
SMA |
Thalassemia |
Screening limited to the Druze in a specific locality |
Argininosuccinic aciduria |
Ataxia telangiectasia |
Carbamoyl phosphate synthetase I deficiency |
Cerebrotendinous xanthomatosis |
Cockayne syndrome |
CPTII |
Fanconi A |
Hyperoxaluria |
Kohlschütter-Tönz disease |
Krabbe disease |
Maple syrup urine disease |
Mitochondrial DNA depletion syndrome |
Mucolipidosis III |
Pompe disease |
Prolidase deficiency |
Retinitis pigmentosa |
Tay Sachs disease |
Thyrosinemia |
Wilson disease |