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P412 Porphyria mix 2

SALSA MLPA Probemix P412 Porphyria mix 2 detects copy number variations in the FECH, UROS, UROD and CPOX genes.

Specifications

Contents: 46 MLPA probes, including 11 probes for FECH, 10 probes for UROS, 9 probes for UROD, and 7 probes for CPOX.

Tissue: human genomic DNA.

Application: research on erythropoietic porphyria, and acute hepatic porphyria.

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

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Key related products

P411 Porphyria mix 1

Probe mix for erythropoietic porphyrias, containing probes detecting the following genes: ALAD, HMBS, PPOX.

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General information

The SALSA MLPA Probemix P412-A3 Porphyria mix 2 is a research use only (RUO) assay for the detection of deletions or duplications in the FECH, UROS, UROD and CPOX genes. FECH, UROS and UROD are associated with Erythropoietic porphyria, while CPOX is linked to Acute hepatic porphyria. CPOX has been included in this probemix instead of the P411-B3 probemix, which contains ALAD, HMBS and PPOX, also linked to Acute hepatic porphyria, due to the limited number of probes which can be included in an MLPA probemix.

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, N.G et al. 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
ADPALADARAcute hepaticAcute neurovisceral
AIPHMBSADAcute hepaticAcute neurovisceral
CEP#UROSARErythropoieticPhotosensitivity; Liver disease; Haemolytic anaemia
PCT#URODSporadic 80%, AD 20%ErythropoieticPhotosensitivity; Liver disease
HCP#CPOXADAcute hepaticAcute neurovisceral (100%); Photosensitivity (20%)
VPPPOXADAcute hepaticAcute neurovisceral (50%); Photosensitivity (80%)
EPP#FECHADErythropoieticPhotosensitivity; 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.

# FECH, UROS, UROD and CPOX genes are included in SALSA MLPA probemix P412.

The FECH gene (11 exons) spans ~42 kb of genomic DNA and is located on 18q21.31, 53 Mb from the p-telomere.

The UROS gene (10 exons) spans ~35 kb of genomic DNA and is located on 10q26.2, 127 Mb from the p-telomere.

The UROD gene (10 exons) spans ~3.5 kb of genomic DNA and is located on 1p34.1, 45 Mb from the p-telomere.

The CPOX gene (7 exons) spans ~14 kb of genomic DNA and is located on 3q11.2, 99 Mb from the p-telomere.

More information is available at https://www.ncbi.nlm.nih.gov/books/.

Regulatory status

SALSA MLPA Probemix P412 Porphyria mix 2 is for research use only (RUO) in all territories.

Product documentation

Version A3

Other versions

Contact us for earlier versions.

List prices

Product

Item no.
Description
Technology
Price
P412-025R
SALSA MLPA Probemix P412 Porphyria mix 2 – 25 rxn
MLPA
€ 296.00
P412-050R
SALSA MLPA Probemix P412 Porphyria mix 2 – 50 rxn
MLPA
€ 580.00
P412-100R
SALSA MLPA Probemix P412 Porphyria mix 2 – 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.

We have no information about specific commercially available positive samples that can be used with this product.

Resources

General MLPA resources

MLPA education

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