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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Frequency of genetic diseases in the Eastern European or Ashkenazi Jewish population

Frequency of genetic diseases in the Eastern European or Ashkenazi Jewish population
Disease or syndrome Incidence Carrier frequency  Percent of carriers with recessive mutations detected by the test Carrier screening recommended by ACOG   Carrier screening recommended by ACMG  Screening panel used by author, Dr. Roman
Cystic fibrosis 1/2500 to 1/3300 1/19 to 1/29 97 x x x
Familial dysautonomia 1/3600 to 1/5000 1/30 to 1/32 99 x x x
Canavan 1/3000 to 1/6000 1/40 98 x x x
Tay-Sachs 1/3000 to 1/3600 1/25 to 1/30 96 by enzyme, 94 by DNA x x x
Gaucher 1/900 1/15 95  x x x
Mucolipidosis type IV 1/40,000 to 1/62,500 1/100 to 1/127 95  x x x
Niemann-Pick  SMPD-1 related (type A and B) 1/32,000 1/90 95  x x x
Fanconi anemia group C 1/32,000 1/89 99  x x x
Bloom 1/40,000 to 1/48,000 1/100 95 to 97  x x x
Lipoamide dehydrogenase deficiency 1/46,000 1/107 >95     x
ABCC8-related familial hyperinsulinism 1/18,000 1/68 90  x   x
NEB-related nemaline myopathy type 2 1/113,000 1/120 >95     x
Joubert 1/34,000 1/102 >99  x   x
Usher type 1F 1/86,000 1/165 >75  x   x
Usher type 3 1/57,000 1/107 >95  x   x
Glycogen storage type I 1/16,000 1/64 98  x   x
Maple syrup urine 1/50,000 1/81 >99  x   x
Walker-Warburg 1/60,500 1/149 >95     x
ACOG: American College of Obstetricians and Gynecologists; ACMG: American College of Medical Genetics.
Graphic 80314 Version 7.0

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