List of diseases covered by Porphyria NGS panel

Published 02/07/2018

List of diseases covered by
Porphyria NGS panel

Gene Condition
ALAD Porphyria, acute hepatic
ALAS2 Protoporphyria, erythropoietic, X-linked; Anemia, sideroblastic, 1
CPOX Coproporphyria
FECH Protoporphyria, erythropoietic, 1
HFE Hemochromatosis; Porphyria cutanea tarda, susceptibility to;
Porphyria variegata, susceptibility to
HMBS Porphyria, acute intermittent
PPOX Porphyria variegata
UROD Porphyria cutanea tarda
UROS Porphyria, congenital erythropoietic

Porphyria NGS panel

Published 31/10/2017

Porphyria
NGS panel

Genes
(full coding
region):		 ALAD, ALAS2, CPOX, FECH, HFE, HMBS, PPOX, UROD, UROS

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: ALAD, CPOX, FECH, HMBS, PPOX, UROD, UROS
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form