Ashkenazi Jewish Carrier Testing - Information only


    
Order Instructions:Order each test as an LSMISC or use the orderable test code indicated.
Synonyms:Ashkenazi Panel
Methodology:Molecular Genetics Testing
Test Includes:Bloom Syndrome, Canavan Disease, Cystic Fibrosis, Dihydrolipoamide Dehydrogenase Deficiency, Familial Dysautonomia, Familial hyperinsulinism, Fanconi Anemia (Group C), Gaucher Disease, Glycogen Storage Disease Type 1a, Joubert Syndrome 2, Maple Syrup Urine Disease, Mucolipidosis Type IV, Nemaline Myopathy, Niemann-Pick Disease Type A, Spinal Muscular Atrophy (SMA), Tay-Sachs Disease, Tay-Sachs Diseae Enzyme Analysis (Hexosaminidase-A), Tay-Sachs Disease Mutation Analysis, Usher Syndrome Type III, Usher Syndrome Type IF, Walker-Warburg Syndrome
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur; results are reported within 10-14 days.
Special Instructions:A completed patient questionnaire and requisition must accompany each sample. (See Associated Links.)
Associated Links:

Genetic Testing Consent Form, Integrated Genetics Requisition Form



Collection Instructions

Specimen:Whole Blood
Optimal Volume:30 mL (multiple tests ordered)
Minimum\Peds Volume:10 mL (single test ordered)
Container:Purple (EDTA) (Yellow (ACD, Solution A) tube available from laboratory)


Processing and Shipping

Specimen Processing:Whole blood. Do not process.
Shipping Instructions:Must arrive within 24 hours of collection. Ship at room temperature.
Test Performed at or Referral Lab Lab Sendouts  (Integrated Genetics, CA)


Interpretive

Reference Range:By report.
Use:Integrated Genetics Ashkenazi Jewish carrier screening menu tests for autosomal recessive diseases of increased frequency in the Ashkenazi Jewish population. It is standard of care to offer carrier screening to individuals of Ashkenazi Jewish descent.


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