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Genomics Precision Diagnostic > Gene Analysis

Single gene analysis

Single gene analysis diagnostic testing for a specific genetic condition associated with variants in a particular gene or genomic region. Testing for single gene disorders can be performed using several different technologies depending on the gene and condition in question.
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Expansion Repeats

Specific technology designed to detect polynucleotide expansions in a gene or genomic region

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Multiplex ligation-dependent probe amplification

Specific technology designed to detect small CNVs or methylation alterations in a particular gene or genomic region

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Next-generation sequencing

Technology designed to detect DNA sequence variations in a gene or genomic region

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