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Ashkenazi genetic disorders

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Test name Ashkenazi genetic disorders
Synonyms or
Related Tests
Laboratory Molecular Genetics (DNA lab)
Cost Contact lab
Reporting Time
Contact
Person Phone WCH Extension
Dr Desiree du Sart 8341-6333 82-6333
Molecular Genetics lab 8341-6275 82-6275
Specimen Requirements

EDTA blood or cheek brush sample

Children: 1-2 ml

Adults: 2-5 ml

Notes

This includes the following disorders found in the Ashkenazi population:

Tay Sachs

Cystic fibrosis

Canavan

Familial dysautonomia

Fanconi anaemia

Bloom Syndrome

Niemann-Pick disease