Huntington Disease Mutation Analysis
Test code
CPT code(s)*
Test resources
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Details
Includes
If amniotic fluid or chorionic villi sampling (CVS) is received, then an additional charge will be added for cell culture work (CPT code(s): 88235) if not already ordered.
Methodology
Capillary Gel Electrophoresis • Fluorescent Polymerase Chain Reaction
Assay category
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Alternative name(s)
(CAG)n expansion,HD,Huntington chorea
Specimen requirements | |
|---|---|
| Patient preparation | None Specified |
| Preferred specimen(s) | 5 mL whole blood collected in an EDTA (lavender-top) tube |
| Alternative specimen(s) | Whole blood collected in: Sodium heparin (green-top) tube or ACD solution B (yellow-top) tube • 10 mL amniotic fluid collected in a sterile plastic leak-proof container • 10 mg chorionic villi collected in a sterile tube filled with sterile culture media • Cultured cells collected in each of two separate sterile T-25 flasks, 75% confluent |
| Minimum volume | 3 mL whole blood • 10 mL amniotic fluid • 10 mg chorionic villi |
| Collection instructions | Do not hold specimen; forward to laboratory when specimen arrives. Whole blood: Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. Waiver signed by the referring health care professional must accompany all specimens or be received in the molecular genetics lab (fax: 949-728-4874) within 4 days of the blood draw. If ordering facility is located in AK, AZ, DE, FL, GA, MA, MN, NV, NH, NJ, NM, NY, OR, SD or VT or test is performed in MA, a physician attestation of informed consent (PAIC) waiver is required and will meet the test specific waiver requirements. Waivers not received within 8 days from draw will result in test cancellation. Call 1-866-GENE-INFO (1-866-436-3463) for a copy of the test specific and or PAIC waiver. For patients under the age of 18, please call (866-436-3463) before specimen collection. Note to Business Units: Do not reject specimen if the waiver is not received. Forward samples to SJC and fax the waiver to the referring physician with instructions that it must be completed and faxed back to SJC (to the number on the waiver) within 4 days of blood draw. For fetal testing: 1. Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission. 2. Documentation of parental carrier status must be provided. 3. It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test. Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives. Amniocyte or chorionic villus (CVS) culture: Two sterile T-25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive. Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives. |
| Transport container | EDTA (lavender-top) tube |
| Transport temperature | Room temperature |
| Specimen stability | Whole blood Room temperature: 8 days Refrigerated: 8 days Frozen: Unacceptable Amniotic fluid, chorionic villi, cultured cells Room temperature: 48 hours Refrigerated: Unacceptable Frozen: Unacceptable |
| Reject criteria | Do not reject |
Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.
*The CPT codes provided are based on AMA guidance and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.
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