Single Gene Analysis
Diagnostic tests for a specific genetic disease associated with mutations in one particular gene or genomic region. A precise clinical diagnosis is required.
Expansion Repeats
Specific technology designed to detect polynucleotide expansions in a gene or genomic region More information
Multiplex ligation-dependent probe amplification
Specific technology designed to detect small CNVs or methylation alterations in a determined gene or genomic region More information
Gene Sequencing
Specific technology designed to detect DNA sequence variations in a gene or genomic region
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