Huntington Disease Mutation Analysis
Test Summary
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.
Aliases
- N/A
Specimen Collection
Special Instructions
See Huntingtons Disease Link and Print 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. Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Do not refrigerate or freeze. Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Do not refrigerate or freeze.
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
Instructions
N/A
Patient Preparation
N/A
Storage
N/A
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
Limitations
N/A
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
Unacceptable Specimens
N/A
Order Code
HUNTNG
EPIC (Premier) Code
LAB1436
Includes
N/A
CPT Code
- 81271
Billing Code
- 670073
CPT Statement
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.
Physician Attestation of Informed Consent
N/A
Testing Laboratory
Quest Diagnostics Nichols Institute
33608 Ortega Highway
San Juan Capistrano CA, 92675
33608 Ortega Highway
San Juan Capistrano CA, 92675
Department
Reference Testing
Reference Range
See Laboratory Report
Setup Schedule / Expected Turnaround Time
Wednesday; Report available: 15 days
Specimen Collection
Special Instructions
See Huntingtons Disease Link and Print 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. Amniocyte or Chorionic Villus (CVS) culture (acceptable): Two sterile T25 flasks, 75% confluent, filled with culture medium. Do not refrigerate or freeze. Dissected Chorionic Villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Do not refrigerate or freeze.
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
Instructions
N/A
Patient Preparation
N/A
Storage
N/A
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
Limitations
N/A
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
Unacceptable Specimens
N/A
Result Information
Methodology
Capillary Gel Electrophoresis • Fluorescent Polymerase Chain Reaction
Testing Laboratory
N/A
Reference Range
See Laboratory Report
Setup Schedule / Expected Turnaround Time
Wednesday; Report available: 15 days