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Huntington Disease Mutation Analysis
Test Code10247X
CPT Codes
81271
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL whole blood • 10 mL amniotic fluid • 10 mg chorionic villi
Other Acceptable Specimens
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
Instructions
Do not hold specimens; 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 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.
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 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
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
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?)
Do not reject
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
Set up: Wed; Report Available: 14 days
Limitations
The number of CAG repeats does not strongly indicate the onset, severity, or the cognitive ability of the affected person. In some instances, with repeat sizes between 36-39, these alleles may have reduced penetrance and it may not be possible to predict if a currently asymptomatic individual with an allele size in this range will develop symptoms of Huntington disease. This test may not detect very large expansions of the Huntington disease gene (over 105 repeats).
Clinical Significance
To confirm the clinical diagnosis of Huntington disease (HD) in affected individuals; to provide pre-symptomatic predictive diagnosis of HD in individuals with positive family history; to identify individuals at risk of having affected offspring.
