Huntington Disease (HTT Gene) DNA Analysis with Interpretation
Label Mnemonic: HUND
Epic Lab Code: LAB2470
Downtime Form: A-1a Molecular Pathology/Diagnostics Laboratory Requisition
Molecular Pathology
6004 BT GH
384-9568
Specimen(s):
Whole Blood
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum:
Adults - 3 mL whole blood in lavender top tube (EDTA) Children - 2 mL whole blood in lavender top tube (EDTA) Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube.
Delivery Instructions:
Room temperature up to 24 hours. Refrigerate overnight, weekends and holidays.
Testing Schedule:
Weekly
Turn Around Time:
21 days
Reference Range:
Normal: <27 CAG repeats Premutation: 27-35 CAG repeats Reduced Penetrance: 36-39 CAG repeats Complete Penetrance: >39 CAG repeats
Comments:
Presymptomatic patients must be enrolled in the University of Iowa Presymptomatic Huntington Disease Testing protocol or similar protocol compliant with the Huntington Disease Society of America's "Guidelines for Genetic Testing for HD". Samples for presymptomatic testing must be accompanied by a signed and witnessed consent form from the individual being tested. Contact Division of Medical Genetics (6-2674) for further information. Presymptomatic patients under the age of 18 will not be tested. Samples from symptomatic patients must be accompanied by a written and signed statement from the ordering physician stating he/she believes HD is the cause of the patient's symptoms. Please complete the following two forms and submit to the laboratory with the specimen and requisition. Huntington's Disease Indication Form Presymptomatic Testing for Huntington Disease / Informed Consent
Methodology:
Polymerase Chain Reaction (PCR) and Southern Blot
CPT Code:
81401