IllnessPorphyria, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Porphyria comprising 9 or altogether 14 curated genes according to the clinical signs

PP0900

Number of genes

13 Accredited laboratory test

Examined sequence length

11,1 kb (Core-/Core-canditate-Genes)
19,8 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

Diagnostic indications

NGS +

[Sanger]

Selected genes

Name	Exon Length (bp)	OMIM-G	Heredity
ALAD	993	125270	AR
ALAS2	1764	301300	XL
CPOX	1365	612732	AD, AR
FECH	1272	612386	AR
GATA1	1242	305371	XLR
HMBS	1086	609806	AD
PPOX	1434	600923	AD
UROD	1104	613521	AR
UROS	798	606938	AR
CLPX	1916	615611	AD
HFE	1047	613609	AD, AR, Sus
RECQL4	3628	603780	AR
UVSSA	2130	614632	YL

Clinical Comment

8 hereditary metabolic diseases: intermittent neuro-visceral manifestations, cutaneous lesions or combination of both

Synonyms

Alias: Inherited defects in the biosynthesis of heme
Allelic: Alzheimer disease, susceptibility to (HFE)
Allelic: Anemia, XL, with/-out neutropenia and/or platelet abnormalities (GATA1)
Allelic: Anemia, sideroblastic, 1 (ALAS2)
Allelic: Hemochromatosis (HFE)
Allelic: Lead poisoning, susceptibility to (ALAD)
Allelic: Leukemia, megakaryoblastic, with/-out Down syndrome, somatic (GATA1)
Allelic: Microvascular complications of diabetes 7 (HFE)
Allelic: Thrombocytopenia with beta-thalassemia, XL (GATA1)
Allelic: Transferrin serum level QTL2 (HFE)
Coproporphyria (CPOX)
Ferrochelatase deficiency; Haem-synthetase deficiency (FECH)
Harderoporphyria (CPOX)
Porphyria cutanea tarda (UROD)
Porphyria cutanea tarda, susceptibility to (HFE)
Porphyria variegata (PPOX)
Porphyria variegata, susceptibility to (HFE)
Porphyria, acute hepatic (ALAD)
Porphyria, acute intermittent (HMBS)
Porphyria, acute intermittent, nonerythroid variant (HMBS)
Porphyria, congenital erythropoietic (UROS)
Porphyria, hepatoerythropoietic (UROD)
Protoporphyria, erythropoietic, 1 (FECH)
Protoporphyria, erythropoietic, 2 (CLPX)
Protoporphyria, erythropoietic, XL (ALAS2)
Rothmund-Thomson syndrome, type 1 (ANAPC1)
Rothmund-Thomson syndrome, type 2 (RECQLA4)
Thrombocytopenia, XL, with/-out dyserythropoietic anemia (GATA1)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

E80.2

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