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Test Directory Huntington Disease Mutation Analysis

Huntington Disease Mutation Analysis

Order Code: HUNTNG

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

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

Department

Reference Testing

Reference Range

See Laboratory Report

Setup Schedule / Expected Turnaround Time

Wednesday; Report available: 15 days

Resources

HUNTINGTONS DISEASE COLLECTION