Table 1.
Jewish genetic disorders for which testing should be offered (see Technical Standards and Guidelines for Reproductive Screening in the Ashkenazi Jewish Population, Page 57)
| Disease name | Carrier frequency | Common mutations | Allele frequency among affected Ashkenazi Jewish patients (%) | Expected Ashkenazi Jewish mutation-specific carrier frequency (%)a |
|---|---|---|---|---|
| Familial dysautonomia | 1 in 31 | 2507+6T→C | 98.7 | 3.18 |
| R696P | 0.7 | 0.02 | ||
| Detection rate: | >99 | |||
| Tay-Sachs disease | 1 in 31 | 1278insTATC | 81.6 | 2.63 |
| 1421+1G→C | 11.5 | 0.37 | ||
| G269S (mild) | 5.8 | 0.19 | ||
| Other | 1.1 | |||
| Detection rate: | >92–99b | |||
| Canavan disease | 1 in 41 | E285A | 83.3 | 2.03 |
| Y231X | 14.1 | 0.34 | ||
| Detection rate: | 97.4 | |||
| Fanconi anemia group C | 1 in 89 | IVS4+4A→T | >99 | 1.12 |
| Detection rate: | >99 | |||
| Niemann-Pick type A | 1 in 90 | R496L | 43 | 0.47 |
| L302P | 29 | 0.32 | ||
| fsP330 | 25 | 0.28 | ||
| Detection rate: | 97 | |||
| Bloom syndrome | 1 in 107 | 2281del6ins7 | >99 | 0.93 |
| Detection rate: | >99 | |||
| Mucolipidosis IV | 1 in 127 | IVS3–2A→G | 77 | 0.61 |
| Del6.4kb | 18 | 0.14 | ||
| Detection rate: | 95 | |||
| Gaucher disease Type I | 1 in 18 | N370S | 86 | 4.8 |
| 84GG | 5.6 | 0.31 | ||
| L444P | 2.1 | 0.12 | ||
| IVS2+1G→A | 0.9 | 0.05 | ||
| Detection rate: | 89–94.6c | |||
a
Carrier frequency (Column 2) × Allele frequency among affected Ashkenazi Jewish patients (Column 4).
b
98% is reflective of a homogenous Ashkenazi background where all four grandparents are likely of Ashkenazi Jewish heritage. 92% may be more reflective of more diverse populations.
c
89% is based on the allele frequencies in Ashkenazi Gaucher disease Type 1 patients. 94.6% is adjusted to account for the presence of N370S homozygous asymptomatic individuals who would not be identified by screening affected patients.