Indications For Ashkenazi Jewish Carrier Screening
Identification of carriers for autosomal recessive diseases of increased prevalence among people of Ashkenazi Jewish descent.
Specimen Requirements
Minimum 10cc whole blood for a single test and 30cc whole blood for multiple tests.
Specimen Container
lavender-top tube (EDTA) or yellow-top tube (ACD-A)
Methodology
Laboratory Testing For Ashkenazi Jewish Carrier Screening involves Molecular genetic analysis for specific mutations:
- Bloom Syndrome
- Canavan Disease Mutation Analysis
- Cystic Fibrosis
- Dihydrolipoamide Dehydrogenase Deficiency
- Familial Dysautonomia
- Fanconi Anemia (Group C)
- Gaucher Disease
- Glycogen Storage Disease Type 1a
- Joubert Synrome 2
- Maple Syrup Urine Disease
- Mucolipidosis Type IV
- Nemaline Myopathy
- Niemann-Pick Disease (Type A)
- Spinal Muscular Atrophy SMA
- Tay-Sachs Disease
- Usher Syndrome (type III an type IF)
- Walker-Warburg Syndrome
Transport Temperature
Room temperature (DO NOT freeze or centrifuge)
Causes for Rejection
Frozen specimen, clotted or hemolysed, inappropriate container
Turnaround Time
10-14 days