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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Huntington Disease Mutation Analysis
Test CodeCPT Codes
81271
Physician Attestation of Informed Consent
Preferred Specimen
Minimum Volume
Other Acceptable Specimens
Instructions
Do not hold specimen; forward to laboratory when specimen arrives.
Whole blood (preferred): 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 866-GENEINFO (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 BUs: 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 (acceptable): 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 (acceptable): Two sterile T25 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 (acceptable): 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 Temperature
Specimen Stability
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 (Eg, hemolysis? Lipemia? Thaw/Other?)
Methodology
Capillary Gel Electrophoresis • Fluorescent Polymerase Chain Reaction
FDA Status
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.
Setup Schedule
Limitations
Reference Range
Clinical Significance