Huntington Disease Molecular Analysis


Sunquest Code:HDMAMDCoPath Code:HDMA
Epic Code:LAB4652Epic Name:Huntington Disease Molecular Analysis
Methodology:Amplification of DNA, capillary electrophoresis to evaluate for trinucleotide repeats
CPT Code:----------CPTCODES HERE----------
Turnaround Time:Results are reported within 7-14 days of receipt of signed consent forms.
Special Instructions:Contact Molecular Diagnostic Genetic Counselor at 612-624-8948 (or 1-800-888-8642, ext. 4-8948) for complete instructions prior to collecting the specimen. Both symptomatic and presymptomatic testing requires a signed informed consent form which is provided by a genetic counselor. Presymptomatic testing requires that the patient be a participant in a Huntington Disease presymptomatic testing protocol. Counseling is available through the Molecular Diagnostics genetic counselor. 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. Bone Marrow Transplant Patients; If a patient is the recipient of an allogeneic transplant, this test must be done on a pre-transplant sample. Contact the Molecular Diagnostics lab to see if a pre-transplant sample is available.
Associated Links:

Genetic Testing Consent Form



Collection Instructions

Specimen:Blood
Optimal Volume:10 mL
Minimum\Peds Volume:2 mL
Container:Yellow (ACD, Solution A) tube available from laboratory (Purple (EDTA))
Causes for Rejection:Frozen or clotted specimen; specimen more than 5 days old; consent form not provided: Genetic counselor will notify referring physician of any missing requirements. Patients are only tested ONCE; if duplicate sample is collected, testing is canceled, credited and original results and collection date reported. Contact 612-273-8445 with questions.
Shared samples will not be accepted unless sent to Molecular first. Contamination will occur on automated hematology analyzers.  DNA extracted at non-CLIA certified (or equivalent) lab.


Processing and Shipping

Specimen Processing:Store blood at room temperature.
Shipping Instructions:Ship blood at room temperature. Must arrive within 24 hours.
Test Performed at or Referral Lab Molecular Diagnostics  (UMMC-East Bank)


Interpretive

Reference Range:

Normal (10-26 repeats), premutation (27-35 repeats) or affected (36 repeats or greater). See interpretive report.

 

Use:To confirm the diagnosis of Huntington's disease or in the evaluation of related neurodegenerative disorders through the analysis of the allele size of the CAG repeat in the Huntington gene.


Click HERE to Report test errors or omissions.
*If no email program is associated with this computer, please contact:
systemlabguide@fairview.org for TestID: 966"