Huntington's Disease
Order Name
HUNTINGTON
Test Number: 5562725
Revision Date 02/13/2023
Test Number: 5562725
Revision Date 02/13/2023
| Test Name | Methodology | LOINC Code |
|---|---|---|
|
Huntington's Disease
|
Repeat-Primed PCR (QP-PCR) |
| SPECIMEN REQUIREMENTS | ||||
|---|---|---|---|---|
| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred | 5 mL (3 mL) | EDTA Whole Blood | EDTA (Lavender Top) | Room Temperature |
| Instructions | For children/adults: prefer 2 lavendar top tubes For newborns: perfer 1-2 mL Click here for Presymptomatic Huntington Disease Testing form. This consent form is required for testing to be performed by the Genetic Center. |
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| GENERAL INFORMATION | |
|---|---|
| Testing Schedule | Varies |
| Expected TAT | 10 Days |
| Clinical Use | Huntington disease (HD) is a neurodegenerative disease of mid-life onset that produces choreic movements and cognitive decline, often accompanied by psychiatric changes. The disease is caused by an expansion of the CAG repeats in 3-5 out of 100,000 individuals. However, the prevalence of HD exceeds 15 per 100,000 in some populations, mostly of Western European origin. Juvenile-onset HD occurs in approximately 5% of affected patients, is rapidly progressive, and presents with rigidity, spasticity, and intellectual decline before the age of 20 years. The symptoms result from the selective loss of neurons, most notably in the caudate nucleus and putamen, and there is currently no effective treatment. |
| Notes | Reference Lab: St. Francis St. Francis Test Code: 9584 |
| CPT Code(s) | 81271 |
| Internal Comments | 2/2/2017 - Added to RML Online - JLS (02/20/17 removed these cpt codes from loinc line 83890, 83891, 83898, 83901, 83903, 83912, and added proper cpt code 81401 to cpt code line - JK) 7/31/17 added correct HD form for download - JK 11/8/17 update pdf link to "http://www.rmlonline.com/images/data/attachments/0000/1925/HD_consent_form.pdf" - JK 08/25 Update CPT SN Reference Lab: St. Francis St. Francis Test Code: 9584 01/26 TAT updated - SN 2/14-23 ?Labcorp Test Code: 620016 Notes: 4mL (1mL) blood 90% cell confluency Specimen Type: Lavender-Top (EDTA) Tube T25 flask Specimen Storage: Ship specimens at room temperature overnight, but stable up to 5 days post-collection at room temperature. DO NOT FREEZE. Specimen Collection: Draw blood into EDTA tube guidelines in kit; Transfer extracted DNA into sterile screw capped tube; Collect biopsy and/or culture cells per established policy Special Instructions: Testing referred to Medical Neurogenetic LLC MNEGA#MOL366 Specimen Stability: Ambient: 5 days Fibroblasts-2 to 3 days (stability provided, Refrigerated : 5 days Fibroblasts- 2 to 3 days (stability provide, Frozen: Do NOT Freeze Muscle-Indefinitely. Huntington Disease Informed Consent Form |
| Lab Section | Reference Lab |