Low Levels of Free Carnitine (C0) via the SLC22A5 Gene

Casandra

Casandra Test Code PG49512Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 16039CPT Code 81479

Low Levels of Free Carnitine (C0) via the SLC22A5 Gene

Clinical Use

Use

This test is intended for individuals with features indicative of Primary Carnitine Deficiency, individuals with low free carnitine (C0) levels identified through newborn screening, and reproductive partners of individuals with known pathogenic SLC22A5 gene variants. The test assists in confirming a diagnosis by detecting variants in the SLC22A5 gene, which are associated with the condition.

Special Instructions

New York approved test. STAT testing is available with an additional surcharge but is void if the report is delivered after 16 days and if the blood sample was submitted. Exome-wide CNV analysis can be added for an additional fee. Ensure all forms are completed for ordering, including clinical notes or a features checklist.

Limitations

The test focuses on detecting variants within the SLC22A5 gene, potentially missing other relevant genetic findings not covered within the scope of this exome or genome sequencing setup. It may not detect all possible mutations or CNVs within these genes, and external factors such as sample quality may affect results.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

The component uses Next Generation Sequencing (NGS) combined with Copy Number Variation (CNV) analysis to evaluate genetic material. The test identifies mutations in the SLC22A5 gene, associated with Primary Carnitine Deficiency.

NGS with CNV (Exome or Genome Platform) • CGP