|
|
| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
TRPC6 DNA Sequencing Test
Test Code92945
CPT Codes
81406<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.
Preferred Specimen
8 mL whole blood collected in two EDTA (lavender-top) tubes
Pediatric (0-3 years): 2 mL
Pediatric (0-3 years): 2 mL
Minimum Volume
6 mL • 1 mL pediatric
Instructions
Informed consent required
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Shipping Conditions: Ship room temperature, avoid freezing
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Shipping Conditions: Ship room temperature, avoid freezing
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing
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 FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Varies; Report available: 14-28 days
Reference Range
No sequence variation detected
Clinical Significance
Disease(s) tested for: Focal segmental glomerulosclerosis
Detects sequence variants in the TRPC6 gene in patients with an autosomal dominant form of hereditary focal segmental glomerulosclerosis. Patients exhibit a high grade proteinuria by the third or fourth decade of life and end stage renal disease within 10 years in more than half of affected individuals.
Detects sequence variants in the TRPC6 gene in patients with an autosomal dominant form of hereditary focal segmental glomerulosclerosis. Patients exhibit a high grade proteinuria by the third or fourth decade of life and end stage renal disease within 10 years in more than half of affected individuals.
