Porphyria (10 genes)

Genetic test Export to PDF

Full name:	Porphyria (10 genes)
Test type:	Clinical
Test specialty:	Molecular Genetics
Test purpose:	Post-natal Diagnosis
Specimen:	Peripheral (whole) blood on EDTA
Method category:	Sequence analysis: entire coding region
Method technique:	Next Generation Sequencing (NGS)
Laboratory:	Centre de Génétique Humaine - Erasme ULB
RIZIV code:	565471-565482
Turnaround time (maximum):	3 months
Created:	23 Aug 2019 - 07:25
Changed:	11 Dec 2023 - 15:55

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 Laboratories

• Centre de Génétique Humaine - Erasme ULB

Related Analytes

• ALAD
• ALAS2
• CPOX
• FECH
• GATA1
• HFE
• HMBS
• PPOX
• UROD
• UROS

Related Gene Panels

• Porphyria (10 genes) - ULB
  Details

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