C9ORF72 DNA Test


Sunquest Code:C9O72D  
Epic Code:LAB6914Epic Name:C9ORF72 DNA Test
Synonyms:Amyotrophic Lateral Sclerosis
Methodology:Repeat expansion detection by PCR
Turnaround Time:Specimens are sent to reference laboratory Mon-Fri; results are reported within 14-21 days.
Special Instructions:A signed informed consent in the patient's medical record is required. The consent should not be sent to the laboratory. The link to the Genetic Testing Consent Form is provided as a convenience for the providers and genetic counselors.
Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Blood
Optimal Volume:8 mL
Minimum\Peds Volume:6 mL
Container:Purple (EDTA)
Causes for Rejection:Frozen specimens.


Processing and Shipping

Specimen Processing:Do not process. Store in refrigerator.
Shipping Instructions:Ship at room temperature.
Stability:Stability: 10 days at room temperature or refrigerated.
Test Performed at or Referral Lab Lab Sendouts  (Athena Diagnostics)
Referral Lab number:670


Interpretive

Reference Range:Normal: Less than 20 repeats.
Use:Detects repeat expansions in the C9ORF72.


Click HERE to Report test errors or omissions.
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