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. 2020 May 27;68(3):126–134. doi: 10.1007/s12026-020-09131-x

Table 1.

Clinical relevance of genetic test results

Confirmed or likely molecular diagnosis Carrier status Heterozygous results
1 heterozygous P/LP allele in AD gene 1 heterozygous allele in AR gene 1 heterozygous allele in a gene with AR and AD inheritance
1 hemizygous P/LP allele in XL gene in male 1 heterozygous allele in XL gene in female
2 heterozygous or 1 homozygous P/LP alleles in AR genes
1 heterozygous P/LP allele and 1 VUS in AR genes