Genetic Testing
Ethnicity and Genetic Disease
Risk Assessment
Everyone is at risk for being a carrier of a genetic disease:
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1. Gaucher disease1 in 16
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2. Cystic Fibrosis1 in 27
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3. Tay-Sachs disease1 in 30
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4. Familial Dysautonomia1 in 31
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5. Spinal Muscular Atrophy1 in 41
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6. Canavan disease1 in 55
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7. ABCC8 hyperinsulinism1 in 68
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8. Glycogen Storage disease Type 1a1 in 71
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9. Fanconi Anemia1 in 90
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10. Joubert syndrome1 in 92
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11. Lipoamide Dehydrogenase deficiency1 in 94
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12. Maple Syrup Urine disease1 in 97
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13. Usher syndrome Type 11 in 100
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14. Niemann Pick disease1 in 100
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15. Mucolipodosis IV1 in 100
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16. Nemaline Myopathy1 in 108
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17. Bloom syndrome1 in 110
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18. Usher syndrome Type 31 in 120
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19. Walker-Warburg syndrome1 in 150
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1. Cystic Fibrosis1 in 26
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2. Spinal Muscular Atrophy1 in 48
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3. Gaucher disease1 in 110
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4. ABCC8 hyperinsulinism1 in 112
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5. Usher syndrome Type 11 in 194
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6. Niemann Pick disease1 in 250
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7. Tay-Sachs disease1 in 290
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8. Glycogen Storage disease Type 1a1 in 374
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9. Canavan disease1 in 477
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10. Joubert syndrome1 in 500
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11. Lipoamide Dehydrogenase deficiency1 in 500
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12. Mucolipodosis IV1 in 500
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13. Nemaline Myopathy1 in 500
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14. Bloom syndrome1 in 500
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15. Usher syndrome Type 31 in 500
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16. Walker-Warburg syndrome1 in 500
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17. Maple Syrup Urine disease1 in 635
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18. Fanconi Anemia1 in 723
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19. Familial Dysautonomia1 in 750
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1. Cystic Fibrosis1 in 45
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2. Spinal Muscular Atrophy1 in 66
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3. ABCC8 hyperinsulinism1 in 112
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4. Fanconi Anemia1 in 158
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5. Gaucher disease1 in 191
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6. Usher syndrome Type 11 in 194
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7. Maple Syrup Urine disease1 in 250
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8. Joubert syndrome1 in 500
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9. Lipoamide Dehydrogenase deficiency1 in 500
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10. Mucolipodosis IV1 in 500
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11. Nemaline Myopathy1 in 500
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12. Usher syndrome Type 31 in 500
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13. Walker-Warburg syndrome1 in 500
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14. Familial Dysautonomia1 in 500
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15. Tay-Sachs disease1 in 563
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16. Glycogen Storage disease Type 1a1 in 623
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17. Niemann Pick disease1 in 842
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18. Canavan disease1 in 1415
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19. Bloom syndrome1 in 2103
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1. Cystic Fibrosis1 in 92
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2. Spinal Muscular Atrophy1 in 100
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3. ABCC8 hyperinsulinism1 in 112
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4. Fanconi Anemia1 in 158
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5. Gaucher disease1 in 170
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6. Glycogen Storage disease Type 1a1 in 177
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7. Usher syndrome Type 11 in 194
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8. Maple Syrup Urine disease1 in 250
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9. Joubert syndrome1 in 500
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10. Lipoamide Dehydrogenase deficiency1 in 500
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11. Mucolipodosis IV1 in 500
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12. Nemaline Myopathy1 in 500
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13. Usher syndrome Type 31 in 500
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14. Walker-Warburg syndrome1 in 500
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15. Familial Dysautonomia1 in 500
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16. Niemann Pick disease1 in 1272
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17. Tay-Sachs disease1 in 1973
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18. Bloom syndrome1 in 2544
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19. Canavan disease1 in 2591
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1. Spinal Muscular Atrophy1 in 72
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2. ABCC8 hyperinsulinism1 in 112
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3. Gaucher disease1 in 113
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4. Fanconi Anemia1 in 158
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5. Usher syndrome Type 11 in 194
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6. Cystic Fibrosis1 in 224
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7. Maple Syrup Urine disease1 in 250
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8. Niemann Pick disease1 in 250
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9. Tay-Sachs disease1 in 300
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10. Joubert syndrome1 in 500
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11. Lipoamide Dehydrogenase deficiency1 in 500
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12. Mucolipodosis IV1 in 500
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13. Nemaline Myopathy1 in 500
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14. Usher syndrome Type 31 in 500
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15. Walker-Warburg syndrome1 in 500
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16. Familial Dysautonomia1 in 500
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17. Bloom syndrome1 in 500
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18. Canavan disease1 in 500
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19. Glycogen Storage disease Type 1a1 in 1819
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1. Cystic Fibrosis1 in 52
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2. Spinal Muscular Atrophy1 in 70
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3. ABCC8 hyperinsulinism1 in 112
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4. Fanconi Anemia1 in 158
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5. Glycogen Storage disease Type 1a1 in 177
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6. Usher syndrome Type 11 in 194
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7. Maple Syrup Urine disease1 in 250
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8. Tay-Sachs disease1 in 300
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9. Joubert syndrome1 in 500
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10. Lipoamide Dehydrogenase deficiency1 in 500
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11. Mucolipodosis IV1 in 500
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12. Nemaline Myopathy1 in 500
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13. Usher syndrome Type 31 in 500
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14. Walker-Warburg syndrome1 in 500
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15. Familial Dysautonomia1 in 500
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16. Bloom syndrome1 in 500
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17. Canavan disease1 in 500
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18. Gaucher disease1 in 679
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19. Niemann Pick disease1 in 2036
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1. Cystic Fibrosis1 in 31
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2. Spinal Muscular Atrophy1 in 41
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3. Gaucher disease1 in 83
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4. ABCC8 hyperinsulinism1 in 112
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5. Fanconi Anemia1 in 158
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6. Usher syndrome Type 11 in 194
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7. Tay-Sachs disease1 in 246
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8. Maple Syrup Urine disease1 in 250
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9. Niemann Pick disease1 in 250
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10. Glycogen Storage disease Type 1a1 in 319
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11. Joubert syndrome1 in 500
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12. Lipoamide Dehydrogenase deficiency1 in 500
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13. Mucolipodosis IV1 in 500
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14. Nemaline Myopathy1 in 500
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15. Usher syndrome Type 31 in 500
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16. Walker-Warburg syndrome1 in 500
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17. Familial Dysautonomia1 in 500
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18. Bloom syndrome1 in 500
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19. Canavan disease1 in 500
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1. Spinal Muscular Atrophy1 in 59
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2. Cystic Fibrosis1 in 70
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3. ABCC8 hyperinsulinism1 in 112
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4. Fanconi Anemia1 in 158
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5. Usher syndrome Type 11 in 194
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6. Niemann Pick disease1 in 250
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7. Gaucher disease1 in 324
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8. Tay-Sachs disease1 in 394
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9. Lipoamide Dehydrogenase deficiency1 in 431
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10. Joubert syndrome1 in 500
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11. Mucolipodosis IV1 in 500
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12. Nemaline Myopathy1 in 500
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13. Usher syndrome Type 31 in 500
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14. Walker-Warburg syndrome1 in 500
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15. Bloom syndrome1 in 500
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16. Canavan disease1 in 500
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17. Maple Syrup Urine disease1 in 862
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18. Glycogen Storage disease Type 1a1 in 862
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19. Familial Dysautonomia1 in 974
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1. Cystic Fibrosis1 in 17
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2. ABCC8 hyperinsulinism1 in 112
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3. Gaucher disease1 in 112
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4. Spinal Muscular Atrophy1 in 142
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5. Fanconi Anemia1 in 158
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6. Glycogen Storage disease Type 1a1 in 177
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7. Usher syndrome Type 11 in 194
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8. Niemann Pick disease1 in 250
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9. Maple Syrup Urine disease1 in 250
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10. Tay-Sachs disease1 in 300
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11. Lipoamide Dehydrogenase deficiency1 in 500
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12. Joubert syndrome1 in 500
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13. Mucolipodosis IV1 in 500
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14. Nemaline Myopathy1 in 500
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15. Usher syndrome Type 31 in 500
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16. Walker-Warburg syndrome1 in 500
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17. Bloom syndrome1 in 500
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18. Canavan disease1 in 500
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19. Familial Dysautonomia1 in 500
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1. Cystic Fibrosis1 in 30
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2. Spinal Muscular Atrophy1 in 55
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3. Gaucher disease1 in 78
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4. Tay-Sachs disease1 in 171
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5. Usher syndrome Type 11 in 194
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6. Glycogen Storage disease Type 1a1 in 318
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7. Familial Dysautonomia1 in 325
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8. Canavan disease1 in 342
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9. Lipoamide Dehydrogenase deficiency1 in 500
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10. Nemaline Myopathy1 in 500
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11. Bloom syndrome1 in 500
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12. Walker-Warburg syndrome1 in 500
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13. Maple Syrup Urine disease1 in 518
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14. Fanconi Anemia1 in 568
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15. Niemann Pick disease1 in 658
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16. Mucolipodosis IV1 in 668
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17. ABCC8 hyperinsulinism1 in 678
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18. Usher syndrome Type 31 in 681
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19. Joubert syndrome1 in 732
Lifetime Risk of Cancer
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