Hereditary Hemochromatosis Panel

Casandra

Casandra Test Code PG52126Version 1 (DRAFT)

Performing Lab

Lab Prevention GeneticsLab Test ID 10243

Hereditary Hemochromatosis Panel

Clinical Use

Use

The Hereditary Hemochromatosis Panel is designed for individuals with relevant features who have a clinical or suspected diagnosis of hereditary hemochromatosis. It is also applicable for those with elevated transferrin saturation and serum ferritin concentration or with MRI evidence of hepatic iron overload. The test covers the analysis of 7 genes associated with hereditary hemochromatosis.

Special Instructions

This test requires a completed online order or paper test requisition form (TRF) along with a labeled specimen to initiate testing. Orders must be submitted by a qualified healthcare provider. Special instructions on testing platforms include options for exome-wide CNV analysis and STAT testing, which requires an additional surcharge.

Limitations

These tests have been developed and their performance characteristics validated by PreventionGenetics LLC, following CAP and CLIA regulations. However, these tests have not been cleared or approved by the US FDA. Turnaround times are estimated and may extend beyond stated if specific sample conditions arise. Limitations in result interpretation may occur if clinical information is not adequately provided.

Test Details

New York Approved

Methodology

NGS (CGP)

Biomarkers

This component includes Next Generation Sequencing (NGS) analysis with coverage for copy number variants (CNV) across the relevant genes associated with hereditary hemochromatosis. Utilizes either Exome or Genome Platforms depending on the sample type and specific test requested. Known coverage includes genes involved in iron metabolism regulation.

Mutation (7 genes)

HFEHJVHAMPTFR2SLC40A1BMP6FTH1