Item Value
Test name C9ORF72 Repeat Expansion
Available Stat? No
Turn around times 4-6 weeks
In House Availability Run once per month
Performed by Medical Genomics - Molecular Diagnostics
Normal range Negative for the hexanucleotide repeat expansion (1-30 repeats)
Container type Lavender top
Amount to Collect 5 mL blood
Collection Instructions Do not collect sample in heparin. Avoid hemolysis. Keep sample refrigerated for overnight or longer storage. Do not freeze.
Sample type EDTA whole blood, amniotic fluid, CVS; cultured cells

Note: Amniotic fluid and CVS collected at UCSF will be sent to Cytogenetics for culturing prior to testing. The tissue culture will be separately billed

If you have additional questions regarding this test, please call: 415-353-1667