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Frontotemporal Dementia (FTD) Evaluation
Test Code92818
CPT Codes
81406 (x2), 81479<br /> Limited Access Code
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.
Includes
GRN DNA Sequencing, MAPT DNA Sequencing, C9orf72 DNA Sequencing
Preferred Specimen
8 mL whole blood collected in EDTA (lavender-top) tube(s)
Minimum Volume
6 mL
Instructions
Informed consent required.
Immediate shipping is recommended to optimize DNA quality and quantity. Ship room temperature, avoid freezing.
Specimen stability: DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Immediate shipping is recommended to optimize DNA quality and quantity. Ship room temperature, avoid freezing.
Specimen stability: DNA yields and quality are better in fresh specimens. However, when necessary, most genetic tests are successful from DNA purified from whole blood that is several days old.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Next Generation Sequencing, Repeat Expansion Detection by Polymerase Chain Reaction
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by the FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Varies; Report available: 21-28 days
Reference Range
No sequencing variants detected for MAPT and GRN genes.
For C9ORF72: Normal < 20 repeats
For C9ORF72: Normal < 20 repeats
Clinical Significance
Detects expansions in the C9ORF72 gene. Detects mutations in the MAPT and GRN genes associated with frontotemporal dementia.