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SALSA MLPA Probemix P429 SDHA-MAX

Paraganglioma and pheochromocytoma

Region: 5p15.3 and 14q23.3

General information: The SALSA MLPA Probemix P429 SDHA-MAX is a research use only (RUO) assay for the detection of deletions or duplications in the SDHA and MAX genes which are associated with pheochromocytomas (PCCs) and paragangliomas (PGLs).

PCCs and PGLs are genetically heterogeneous neural crest-derived neoplasms. Both are characterised by the growth of benign tumours in structures called paraganglia, affecting approximately one in four million people. Despite their benign character, these tumours can be associated with high morbidity and mortality due to mass effect, high amounts of circulating catecholamines and metastasis. Up to 40% of the PCC and PCL patients carry a germline mutation in 10 genes, among them are the MAX and SDHA gene (Albattal et al. 2019).

Mutations in the succinate dehydrogenase (SDH) complex subunit gene SDHA, at 5p13.33, can lead to PCC and PGL with variable penetrance (Burchinon et al. 2010). Moreover, bi-allelic SDHA mutations have been shown to cause an early onset neurodegenerative disorder known as Leigh syndrome (Hovarth et al. 2006).

Germline mutations in myc-associated factor X (MAX), at 14q23.2, have been shown to be responsible for ~1% of PCC/PGL patients (Comino-Mendez et al. 2011; Burnichon et al. 2012). MAX is a member of basic helix-loop-helix leucine zipper (bHLHZ) family of transcription factors. Through its ability to form homo- or heterodimers with other family members, like MYC and MXD1 (MAD), MAX is suggested to act as a tumour suppressor gene and to play an important role in cell proliferation, differentiation and apoptosis (for review see Deng 2012; Cascon and Robledo 2012). Recently, both germline and somatic intragenic copy number alterations of MAX gene have been described (Korpershoek et al. 2016 and Daly et al. 2018).

This SALSA MLPA Probemix is not CE/FDA registered for use in diagnostic procedures. Purchase of this product includes a limited license for research purposes.

Probemix content: The SALSA MLPA Probemix P429-B2 SDHA-MAX contains 42 MLPA probes with amplification products between 129 and 463 nucleotides (nt). This includes 10 probes for the SDHA gene and 8 probes for the MAX gene. This probemix also contains four flanking probes for the SDHA and five flanking probes for the MAX genes. In addition, 15 reference probes are included that detect autosomal chromosomal locations. Complete probe sequences and the identity of the genes detected by the reference probes are available online (www.mlpa.com).

This probemix contains nine quality control fragments generating amplification products between 64 and 105 nt: four DNA Quantity fragments (Q-fragments), two DNA Denaturation fragments (D-fragments), one Benchmark fragment, and one chromosome X and one chromosome Y-specific fragment. More information on how to interpret observations on these control fragments can be found in the MLPA General Protocol and online at www.mlpa.com.

Order Items

Probemix

Item no.
Description
Technology
Price
P429-025R
SALSA MLPA Probemix P429 SDHA-MAX – 25 rxn
€ 243.00
P429-050R
SALSA MLPA Probemix P429 SDHA-MAX – 50 rxn
€ 486.00
P429-100R
SALSA MLPA Probemix P429 SDHA-MAX – 100 rxn
€ 972.00

Required Reagents

Item no.
Description
Technology
Price
EK1-FAM
SALSA MLPA EK1 reagent kit – 100 rxn – FAM
€ 300.00
EK1-Cy5
SALSA MLPA EK1 reagent kit – 100 rxn – Cy5
€ 300.00
EK5-FAM
SALSA MLPA EK5 reagent kit – 500 rxn – FAM
€ 1380.00
EK5-Cy5
SALSA MLPA EK5 reagent kit – 500 rxn – Cy5
€ 1380.00
EK20-FAM
SALSA MLPA EK20 reagent kit – 2000 rxn – FAM
€ 5295.00

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