Disorders of Iron Regulation


We offer a specialized screening for Disorders of Iron Regulation.​ This includes the common HFE mutations and other rare disorders.

We offer the common North European mutation screen for the H63D and C282Y on patients with suspected Haemochromatosis and family studies.

A 16 gene NGS panel is available to screen for the rarer genes. The laboratory also screens the 5 most common genes, HFE, HFE2, SLC40A1, HAMP and TFR2 for CNVs using MLPA analysis.

The request form for the Disorders of Iron Regulation Gene Panel is found here.

The genes on the panel are listed below.​

HGNC standard name and symbol of the gene

HGNC

number

OMIM

number

Solute carrier family 40 (iron-regulated transporter), member 1; SLC40A1

10909

604653

Hemojuvelin; HFE2

4887

608374

HEPCIDIN ANTIMICROBIAL PEPTIDE; HAMP

15598

606464

Transferrin Receptor 2;TFR2

11762

604720

Haemochromatosis; HFE

4886

613609

Ceruloplasmin; CP

2295

117700

Hephaestin; HEPH

4866

300167

Transmembrane Protease Serine 6;TMPRSS6

16517

609862

Solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2; SLC11A2

10908

600523

FTL

3999

134790

FTH1

3976

134770

aminolevulinate, delta-, synthase 2; ALAS2

397

301300

Transferrin; TF

11740

190000

Bone morphogenetic protein 4; BMP4

1071

112262

Bone morphogenetic protein 6; BMP6

1073

112266

SMAD family member 4; SMAD4

6770

600993

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Last updated 23 Feb 2017.