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Cardiomyopathy Sequencing and Del/Dup Panel
Test Code11439
CPT Codes
81439<br>Restricted Client Code
Preferred Specimen
5 mL whole blood collected in EDTA (lavender-top) tube, or 2 mL whole blood in EDTA (lavender-top) tube from a newborn, or 1 buccal swab submitted in a sterile leak-proof container
Minimum Volume
2 mL whole blood • 1 mL newborn whole blood
Instructions
Blood: Blood specimens will be rejected if frozen, hemolyzed or clotted.
Buccal Swabs: Samples will be rejected if the tinted stabilizing solution leaks out or if the transport tube is not labeled with patient name and additional ID.
Labeling: Label with the patient’s name plus a second identifier such as date of birth, specimen ID or medical record number. If Cord Blood, state so on both the tube and the paperwork.
Buccal Swabs: Samples will be rejected if the tinted stabilizing solution leaks out or if the transport tube is not labeled with patient name and additional ID.
Labeling: Label with the patient’s name plus a second identifier such as date of birth, specimen ID or medical record number. If Cord Blood, state so on both the tube and the paperwork.
Transport Temperature
Whole blood: Refrigerated (cold packs)
Buccal swab: Room temperature
Buccal swab: Room temperature
Specimen Stability
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Refrigerated: 7 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing
FDA Status
This test was developed, and its performance characteristics determined by GeneDx. This test has not been cleared or approved by the U.S. Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. The test is used for clinical purposes and should not be regarded as investigational or for research. The laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high-complexity clinical testing.
Setup Schedule
Set up: As needed; Report available: 4 weeks
Reference Range
Negative
Clinical Significance
• Molecular confirmation of a clinical diagnosis in symptomatic patients
• Risk assessment of asymptomatic family members of a proband with cardiomyopathy
• Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
• Recurrence risk calculation
• Risk assessment of asymptomatic family members of a proband with cardiomyopathy
• Differentiation of hereditary cardiomyopathy from acquired (non-genetic) cardiomyopathy
• Recurrence risk calculation
