Expanded Ashkenazi Jewish Screening
Ashkenazi Jewish carrier screening helps to identify carriers for inherited genetic conditions that occur frequently in individuals with Eastern European (Ashkenazi) Jewish ancestry.
According to ACMG, 1 in 4 Ashkenazi Jews is a carrier of a genetic disorder.1
GenPath’s Expanded Ashkenazi Jewish carrier panel screens for more than 45 disorders. The clinical presentations of the disorders on the panel are mostly severe, often with childhood onset. For some, clinically managed treatment can significantly improve quality of life
Reasons for testing
- Patients in the US represent increasingly diverse ethnic backgrounds.
- Testing will identify carriers of a genetic disorder, who are typically healthy individuals who show no sign of disease.
- Carriers, although healthy, can have children with the disease and its symptoms, if the partner is also a carrier.
- Some diseases cause physical and mental impairment, have a shortened lifespan or require lifelong treatment and management.
|Panel||Number of Disorders||Further Information|
|Expanded AJ Panel||47||Test Info Sheet|
1. Inheritance Autosomal recessive
2. Methodology Genotyping by Next-generation sequencing (NGS)
3. Test Code See table for test codes
4. TAT 12-14 days
5. Requirements One full EDTA (Lavender top) tube or Oral rinse