Skip to main content
. 2014 Mar 13;2(2):85–94. doi: 10.1002/mgg3.73

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