Contents

Search

Ashkenazi Jewish person

Laboratory: - screening done by DNA analysis (PCR) done on cells obtained by chorionic villus sampling or amniocentesis - Ashkenazi jewish genomic sequence analysis * also see ARUP consult [1] 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

Related

Ashkenazi jewish genomic sequence analysis

References

  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
  2. 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: 18197057 PMCID: PMC3110977 Free PMC article.