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Tests for mutations of the ALDL gene has been established. Mutation in this gene results in hypophosphatasia. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the SCN2A gene have been established. Mutations in this gene results in an epileptic phenotype with benign familial neonatal-infantile convulsions. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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To complement the all ready existing test related to HNPCC Amplexa establishes a a genetic screening test for the entire MSH6 gene. MSH6 has previously been demonstrated to be related to HNPCC with MSI-low tumors.

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Tests for mutations of the ALDH7A1 gene have been established.Mutations in the ALDH7A1 gene results in an epileptic phenotype with Pyridoxine-dependent epilepsy, characterized by a combination of various seizure types.

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As a supplement to our other thrombosis tests we now expand our analysis panel to include tests for Protein C (PROC) and Protein S (PROS). Together with our tests for the Factor V Leiden (FVL), Prothrombin 20210G>A and Methyl-Tetrahydrofolate Reductase 677C>T (MTHFR) genetic variants. PROC is a vitamin K-dependent plasma glycoprotein that is a key component of the anticoagulant system.

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Tests for mutations of the LGI1 gene have been established. Mutations in the LGI1 (Leucine-rich, glioma inactivated 1) gene results in an epileptic phenotype with autosomal dominant lateral temporal epilepsy (ADLTE) characterized by auditory auras and focal seizures. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the CSTB gene have been established. Mutations in the CSTB (Cystatin B) gene results in an epileptic phenotype with progresiv myoclonic epilepsy (EPM1). The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the GABRG2 gene have been established. Mutations in this gene results in an epileptic phenotype with generalized epilepsia with febrile seizures GEFS+1 and Severe myoclonic epilepsy in infancy (SMEI). The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the SCN1B gene have been established. Mutations in this gene results in an epileptic phenotype with generalized epilepsia with febrile seizures GEFS+1. SCN1B has additionally been shown to be the cause of Brugada syndrome 5. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the NHLRC1 gene have been established. Mutations in this gene results in an epileptic phenotype with Lafores disease. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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Tests for mutations of the SCN1A gene have been established. Mutations in this gene results in an epileptic phenotype ranging from GEFS+ to SMEI (Dravets syndrome). The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.

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