List of genetic tests and genetic information

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The main sample was based on second-generation sequencing technology, and the exon-based region was captured using a capture probe (GenCap) to cover the exon of the target gene and the single nucleotide variation (SNV), short fragment insertion deletion (indel), gene copy number variation (CNV) of ±50bp. Analysis of the sample revealed A heterozygous mutation in the NR3C1 gene: A heterozygous mutation in nucleotide 1839 from thymine T to adenine A (c.1839T>A), resulting in amino acid 613 from tyrosine to terminator (p.Tyr613Ter).

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