Laboratory: Genomics  (MOLECULAR DIAGNOSTICS)
Test Name:
Test Code: MD
Clinical Information:
This panel allows for carrier testing in individuals of Ashkenazi Jewish (AJ) descent for Tay Sachs disease, Canavan disease, Familial Dysautonomia and Fanconi Anemia Type C.  The kit tests simultaneously for the presence of the following eight mutations:
• Tay Sachs disease:  c.1278insTATC, c.805G>A (p.G269S) and c.1421+1G>C(IVS12+1G>C) in the HEXA gene.  These three mutations account for 98% of the carriers in the AJ population.  For testing using biochemical or enzymatic assay, see "HEXOSAMINIDASE - (S)".
• Canavan disease:  c.693C>A (p.Y231X) and c.854A>C (p.E285A).  These two mutations account for 98% of mutations in the AJ population.
• Familial Dysautonomia:  c.2204+6T>C (2507+6T>C) and p.R696P in the IKBKAP gene.  These two mutations account for >99% of the mutations found in the AJ population.
• Fanconi Anemia Type C:  c.456+4A>T (IVS4+4A>T) in the FANCC gene.  This one mutation will detect 98% of the carriers in the AJ population.
For more information about each of these disorders, click on the appropriate link below:
Collection Devices:
Specimen Required:
Blood: 8.0 mL

Note that extracted DNA samples can only be accepted from accredited laboratories.
Reference Values:
An interpretive report will be sent.
Within 6 Weeks
Expedited turnaround time, where medically indicated, available upon request.
See Also:
More Information:
Do NOT centrifuge.  Specimen is forwarded to Health Sciences Centre - MS5 for analysis.  Store and ship specimens at room temperature.  Specimen sent for Molecular tests are not to be used for other tests (ie. CBC).