Huntington Disease Molecular Analysis
| Sunquest Code: | HDMAMD | CoPath Code: | HDMA |
| Epic Code: | LAB4652 | Epic Name: | Huntington Disease Molecular Analysis |
| Methodology: | Amplification of DNA, capillary electrophoresis to evaluate for trinucleotide repeats | ||
| 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: | |||
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.
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| 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. |
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