LAMB2 DNA Sequencing Test

Test Code

92923

CPT Codes
81407<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

Minimum Volume

6 mL • Pediatric: 1 mL

Instructions

Informed consent required

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.

Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.

Shipping Conditions: Ship same day. Must arrive at Athena on a weekday

Transport Temperature

Room temperature

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: Nephrotic Syndrome
Detects mutations in the LAMB2 gene

Detects sequence variants in the LAMB2 gene. Truncating sequence variants lead to Pierson syndrome with nephrotic syndrome, diffuse mesangial sclerosis, distinct eye anomalies, and intellectual disability. Missense sequence variants are associated with variable symptoms ranging from isolated early onset nephrotic syndrome to intermediate phenotypes.

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.