Porphyria (10 genes) - ULB

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Full name:	Porphyria (10 genes) - ULB
Description:	Kit utilisé : Roche SeqCap EZ custom design
Laboratory:	Centre de Génétique Humaine - Erasme ULB
Created:	15 Jul 2019 - 11:05
Changed:	12 Dec 2023 - 08:13

Related Diseases

• Acute intermittent porphyria
• Congenital erythropoietic porphyria
• Familial porphyria cutanea tarda
• Hepatoerythropoietic porphyria
• Hereditary coproporphyria
• Porphyria due to ALA dehydratase deficiency
• Porphyria variegata
• X-linked erythropoietic protoporphyria

Related Analytes

Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
ALAD	100.00	0
ALAS2	100.00	0
CPOX	100.00	0
FECH	100.00	0
GATA1	100.00	0
HFE	100.00	0
HMBS	100.00	0
PPOX	100.00	0
UROD	100.00	0
UROS	100.00	0