List of diseases covered by Porphyria NGS panel

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

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 NGS panel with CNV

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