Am a 23 year old female i had a PCR test for fragile x synd.in usj labs,it only showed one allele with 32 cgg repeats they ordered a southern blot test why
Southern blot analysis and PCR analysis have different advantages. Southern blot analysis is the method
of choice for identifying full mutations and large premutations and determining if the gene is methylated while PCR analysis allows accurate determination of CGG repeat number for normal,
grey zone and premutation alleles. Fragile X testing is most accurate and reliable when both approaches are used in the laboratory.
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