MRC-Holland - New MLPA products

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Newly-developed products at MRC-Holland New products are launched every week!
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P237 DNAI1 P072 MSH6 P277 TELOMERE-10 ME003 Tumor suppressor-3 P071 Leukodystrophy P268 DYSF P292 PCDH15 P306 Spastic paraplegia SPG11 is a form that has neurologic features in addition to spasticity. Autosomal recessive hereditary spastic paraplegia (ARHSP) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. P265 PROC Protein C deficiency is usually inherited as an autosomal dominant trait that is associated with an increased risk of venous thrombosis. P324 22q11 This P324 MLPA probemix contains additional probes for the 22q11 region including 12 probes for the TBX1 gene. This P324 probemix is not intended for primary screening of DiGeorge syndrome but might be useful for some research applications. P291 Telomere-12 This P291-A1 Human telomere-12 probemix can be used to confirm and further characterise abnormalities detected by SALSA MLPA kit P036 Human telomere-3 and/or SALSA MLPA kits P069 / P070 Human telomere. Contains probes for 13q, 14q, 15q and 16q. P290 Prenatal microdeletion This kit has been developed to simultaneously screen amniotic fluid samples for trisomies 13, 18, 21 and for multiple microdeletion syndromes. P238 DNAH5 Primary ciliary dyskinesia (PCD) phenotype is characterized by dysfunction of motile cilia and flagella. Mutations in the DNAH5 and DNAI1 genes on chromosomes 5p and 9p respectively are found in 38% of PCD patients. P040 CLL This probemix contains a selection of the probes in P037 / P038 CLL. P264 Human telomere-9 This P264-A1 Human telomere-9 probemix can be used to confirm and further characterise abnormalities detected by SALSA MLPA kits P036 / P069 / P070 Human telomere-3. It contains probes for 1q, 2q, 3q, and 4q. P058 IGHMBP2 Mutations in the IGHMBP2 gene can result in autosomal recessive distal spinal muscular atrophy 1 (DSMA1). P300 Reference probemix-2 Contains reference probes and control fragments specific for unique human DNA sequences. This probemix has been developed to add 'home-made' synthetic MLPA probes. The control fragments and reference probes in this P300 probemix facilitate the data analysis of your synthetic probemix and maximise the number of synthetic probes you can include. P200 Reference probemix-1 Contains reference probes and control fragments specific for unique human DNA sequences. This probemix has been developed to add 'home-made' synthetic MLPA probes. The control fragments and reference probes in this P200 probemix facilitate the data analysis of your synthetic probemix and maximise the number of synthetic probes you can include. P144/P145 MDS Myelodysplastic syndrome (MDS) is a congenital hematopoietic stem cell disease and comprises a collection of hematologic disorders characterized by dysplastic hematopoietic differentiation. It is believed that accumulation of genetic and epigenetic alterations has a role in the development of MDS. These P144-A1 and P145-A1 MDS probemixes contain probes for chromosomes 5, 7, 8, 11, 12, 17, 20 and 21. P296 aHUS aHUS can be caused by mutations in the following genes: complement factor H (CFH), membrane cofactor protein (MCP / CD46), or complement factor I (CFI). This P296-A1 aHUS probemix contains probes for each of the 11 CFI exons and all but one of the 14 MCP exons. P239 BRCA1 region This kit can be used to characterize BRCA1 deletions / duplications that extend to the region before exon 1 or after exon 27. P283 TPMT A deficiency of TPMT results in increased conversion to toxic TGNs. P267 Dandy-Walker Dandy-Walker Malformation (DWM) is a form of cerebellar hypoplasia. In some persons diagnosed with DWM deletions of 3q2 were found, encompassing the ZIC1 and ZIC4 genes. P313 CREBBP The Rubinstein-Taybi syndrome is a well-defined multiple congenital anomalies - mental retardation syndrome. The CREBBP gene comprises 31 exons, spanning about 155 kb of genomic DNA and is located on 16p13.3. P315 EGFR EGFR is a rational target in solid tumors. Activation of the EGFR promotes processes that are responsible for tumor growth and progression. The EGFR gene comprises 28 exons, spanning about 188 kb of genomic DNA and is located on 7p11. P256 FLCN The FLCN gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome. P269 FRMD7 Congenital nystagmus is an eye movement disorder in which one or both eyes are in constant movement. The great majority of idiopathic congenital nystagmus is linked to Xq26 (NYS1 locus) and is due to defects in the recently identified FRMD7 gene. P286 Telomere-11 Probes for 9q, 10q, 11q, 12q telomeres. P240 BRIP1-CHEK1 The protein encoded by the BRIP1 gene is a member of the RecQ DEAH helicase family and interacts with the BRCT repeats of breast cancer, type 1 (BRCA1). CHEK1 plays an essential role in the mammalian DNA damage checkpoint (G2/M DNA damage checkpoint), embryonic development, and tumor suppression, and is regulated by ATR. P257 TERT-DKC1 Dyskeratosis congenita (DC) is characterised by multiple features including muco-cutaneous abnormalities, bone marrow failure and an increased predisposition to cancer. DKC1 encoding dyskerin is mutated in X-linked recessive DC. TERC is mutated in autosomal dominant DC, suggesting that DC is primarily a disease of defective telomere maintenance. P279 CACNA1A Voltage-dependent calcium channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes. This gene, CACNA1A, encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurological disorders, familial hemiplegic migraine and episodic ataxia 2. P280 Pendred-SLC26A4 Pendred syndrome is the most common syndromal form of deafness. Pendred syndrome is caused by mutations in the SLC26A4 gene, mutations in this gene can also cause enlarged vestibular aqueduct (EVA). P274 Hyperekplexia - Startle disease Hyperekplexia is a hereditary neurological disorder characterized by exaggerated startle reflexes and muscle stiffness in the neonate. The disease has been associated with mutations in the glycine receptor subunit genes GLRA1 and GLRB, and within the glycine transporter 2 gene SLC6A5 (GLYT2). P275 MAPT MAPT gene mutations has been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. This gene encodes the microtubule-associated protein tau (MAPT). P262 Growth hormone Insensitivity Growth hormone insensitivity (GHI) is characterized by severe short stature, normal to elevated serum levels of growth hormone (GH) and resistance to exogenous GH therapy. The following genes are involved in GHI: GHR, IGF1, JAK2, STAT5B. P194 MCCC Defects in the MCCC1 gene on chromosome 3q27 and the MCCC2 gene on chromosome 5q12 are the main cause of 3-methylcrotonylglycinuria I and II. The proteins encoded by these genes are the alpha and beta subunit of 3-methylcrotonyl-CoA carboxylase, a biotin-dependent mitochondrial enzyme essential for the catabolism of leucine.
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