Diagnostics/Test portfolio/Iron & Copper Storage Prevention

PREVENTION · PRV04

Iron & Copper Storage Prevention

Assesses genes associated with hereditary hemochromatosis, Wilson disease, aceruloplasminemia, and related iron-handling disorders.

STARTING MATERIAL

1–2 ml EDTA blood or 1–2 µg genomic DNA. Alternative material must be confirmed before collection or shipment.

METHOD / ANALYTICAL SCOPE

Targeted next-generation sequencing of the complete coding sequence and relevant splice regions of the selected genes; this is not a hotspot-only screen.

MEDICAL REPORT

Clinically classified findings, an explanation of the inherited risk, and recommendations for medical follow-up or preventive discussion.

TURNAROUND

Confirmed after case and sample review.

CLINICAL VALUE

Where this test is strongest

8 genes across iron and copper metabolism

Includes HFE and ATP7B

May support earlier biochemical monitoring

Can guide targeted family testing

LIMITATIONS

What must remain visible

!A predisposition is not a diagnosis and does not predict if or when disease will occur.

!A negative result does not remove all inherited or non-genetic risk; selection and interpretation require medical context.

GENE & ANALYTICAL SCOPE

8 published genes

Complete 8-gene storage-disorder scope.

Iron & copper storagePRV04 · 8 published genes
+

Complete panel scope (8 genes).

ATP7BCPGLRX5HAMPHFEHJVSLC40A1TFR2
Search another gene across the portfolio

BEFORE ORDERING

Confirm the current laboratory specification.

The official case review and quotation confirm eligibility, accepted material, validated coverage and variant classes, consent, turnaround, price, and report pathway.

Prepare case enquiry
WhatsApp