Ashkenazi Jewish person
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Laboratory
- screening done by DNA analysis (PCR) done on cells obtained by chorionic villus sampling or amniocentesis
- Ashkenazi jewish genomic sequence analysis
Management
- carrier screening for Tay-Sachs disease, Canavan disease, cystic fibrosis & familial dysautonomia (FD) should be offered to Ashkenazi Jewish couples
- carrier screening for other disorders seen with increased frequency in Ashkenazi Jewish individuals (e.g., Bloom syndrome, Fanconi anemia, Gaucher disease, glycogen storage disease type 1a, mucolipidosis type IV, Niemann-Pick disease type 1A) should beoffered when there is a positive family history. (III-A)
- when only one member of a couple is of Ashkenazi Jewish ancestry, screening should be offered for Tay-Sachs disease only
- refer for genetic counselling, either before conception or prenatally
Additional terms
References
- ↑ 1.0 1.1 ARUP Consult: Laboratory Testing for Developmental Delay, Ashkenazi Jewish Genetic Diseases The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/ashkenazi-jewish-genetic-diseases
- ↑ Gross SJ, Pletcher BA, Monaghan KG; Professional Practice and Guidelines Committee. Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008 Jan;10(1):54-6. PMID: https://www.ncbi.nlm.nih.gov/pubmed/18197057 PMCID: PMC3110977 Free PMC article.