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P411 Porphyria mix 1

SALSA MLPA Probemix P411 Porphyria mix 1 detects copy number variations in the ALAD, HMBS and PPOX genes.

Specifications

Contents: 46 MLPA probes, including 10 probes for ALAD, 14 probes for HMBS (covering all exons of the transcript variant NM_000190.4), and 13 probes for PPOX (covering all exons).

Tissue: human genomic DNA.

Application: research on acute hepatic porphyria.

For research use only (RUO). Not for use in diagnostics.

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Key related products

P412 Porphyria mix 2

Contains probes for the FECH, UROS, UROD genes linked to Erythropoietic porphyria and the CPOX gene (Acute hepatic porphyria).

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General information

The SALSA MLPA Probemix P411 Porphyria mix 1 is a research use only (RUO) assay for the detection of deletions or duplications in the ALAD, HMBS and PPOX genes, which are associated with acute hepatic porphyria. The CPOX gene, which is also associated with acute hepatic porphyria, is included in the P412 Porphyria mix 2.

Porphyrias are a group of disorders characterised by accumulation of porphyrins and porphyrin precursors owing to enzymatic deficiencies of the haem biosynthetic pathway. They can be divided into acute hepatic porphyrias and erythropoietic porphyrias based on their clinical manifestations. Acute hepatic porphyrias are characterised by abdominal pain, neuropsychiatric symptoms and neuropathy. Erythropoietic porphyrias do not cause neurologic symptoms, but are associated with photosensitive dermatologic eruptions and may be associated with additional hepatic injury and/or haemolysis (Simon & Herkes, 2011).

Acute hepatic porphyrias consist of ALA dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP). Erythropoietic porphyrias comprise congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT) and the related hepatoerythropoietic porphyria and erythropoietic protoporphyria (EPP); see Table 1.

Table 1. Genetic classification and clinical manifestations of the porphyrias
PorphyriaEnzymeInheritanceClassificationClinical features
ADPALAD$ARAcute hepaticAcute neurovisceral
AIPHMBS$ADAcute hepaticAcute neurovisceral
CEPUROSARErythropoieticPhotosensitivity; Liver disease; Haemolytic anaemia
PCTURODSporadic 80%, AD 20%ErythropoieticPhotosensitivity; Liver disease
HCPCPOXADAcute hepaticAcute neurovisceral (100%); Photosensitivity (20%)
VPPPOX$ADAcute hepaticAcute neurovisceral (50%); Photosensitivity (80%)
EPPFECHADErythropoieticPhotosensitivity; Liver disease

AD = autosomal dominant, AR = autosomal recessive, ADP = ALA dehydratase deficiency porphyria, AIP = acute intermittent porphyria, ALAD = ALA dehydratase, CEP = congenital erythropoietic porphyria, CPOX = coproporphyrinogen oxidase, EPP = erythropoietic protoporphyria, FECH = ferrochetalase, HCP = hereditary coproporphyria, HMBS = hydroxymethylbillane synthase, PCT = porphyria cutanea tarda, PPOX = protoporphyrinogen oxidase, UROD = uroporphyrinogen dehydratase, UROS = uroporphyrinogen synthase, VP = variegate porphyria.

$ ALAD, HMBS and PPOX genes are included in SALSA MLPA probemix P411.

The ALAD gene (12 exons), spans ~15 kb of genomic DNA and is located on 9q32, 115 Mb from the p-telomere.

The HMBS gene (15 exons), spans ~8.7 kb of genomic DNA and is located on 11q23.3, 118 Mb from the p-telomere.

The PPOX gene, (13 exons) spans ~4.8 kb of genomic DNA and is located on 1q23.3, 159 Mb from the p-telomere.

More information is available at:

Regulatory status

SALSA MLPA Probemix P411 Porphyria mix 1 is for research use only (RUO) in all territories.

Product documentation

Version B3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P411-025R
SALSA MLPA Probemix P411 Porphyria mix 1 – 25 rxn
MLPA
€ 296.00
P411-050R
SALSA MLPA Probemix P411 Porphyria mix 1 – 50 rxn
MLPA
€ 580.00
P411-100R
SALSA MLPA Probemix P411 Porphyria mix 1 – 100 rxn
MLPA
€ 1135.00

Required reagents

A general SALSA MLPA Reagent Kit is required for MLPA experiments (to be ordered separately).

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA Reagent Kit – 100 rxn – FAM (6 vials)
MLPA MS-MLPA
€ 361.00
EK1-CY5
SALSA MLPA Reagent Kit – 100 rxn – Cy5 (6 vials)
MLPA MS-MLPA
€ 361.00
EK5-FAM
SALSA MLPA Reagent Kit – 500 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK5-CY5
SALSA MLPA Reagent Kit – 500 rxn – Cy5 (5×6 vials)
MLPA MS-MLPA
€ 1658.00
EK20-FAM
SALSA MLPA Reagent Kit – 2000 rxn – FAM (5×6 vials)
MLPA MS-MLPA
€ 6373.00

Price details & ordering

The prices above are list prices for direct orders from MRC Holland. Contact us for a quote that takes discounts and additional costs (such as shipping costs) into account. Different prices apply for orders through one of our sales partners; contact your local supplier for a quote.

More information about ordering & prices

Positive samples

Inclusion of a positive sample is usually not required, but can be useful for the analysis of your experiments. MRC Holland has very limited access to positive samples and cannot supply such samples. We recommend using positive samples from your own collection. Alternatively, you can use positive samples from an online biorepository, such as the Coriell Institute.

The commercially available positive samples below can be used with the current (B3) version of this product.

Resources

General MLPA resources

MLPA education

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