Focal and Segmental Glomerulosclerosis (FSGS) Eval

Test Code

92956

CPT Codes
81405, 81406 (x3)<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

ACTN4 DNA Sequencing Test, INF2 (FSGS) DNA Sequencing Test, NPHS2 (Podocin) Sequencing Analysis, TRPC6 DNA Sequencing Test

Preferred Specimen

8 mL whole blood collected in two EDTA (lavender-top) tubes, or
Pediatric volume: 2 mL whole blood

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.

Hemolysis may compromise DNA recovery and integrity after 48 hours.

Shipping Conditions: Ship room temperature, avoid freezing

Transport Temperature

Room temperature or refrigerated (cold packs)

Specimen Stability

Room temperature: 10 days
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: Nephronic Syndrome, Focal segmental glomerulosclerosis

Detects mutations in the INF2, SCTN4, TRPC6, and NPHS2 genes.

Detects sequence variants in the INF2, ACTN4, TRPC6, and NPHS2 genes in patients with nephrotic syndrome. Patients exhibit proteinuria, nephrotic syndrome, and frequently the progressive loss of renal function.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.