IGENOMICS New PLA Codes (April 2025)

I did not really understand these new PLA codes.  I can't vouch for whether Chat GPT is explaining them right.   It is certainly trying to explain them.

CHAT GPT SAYS:

Explanation in Clinical Terms (MD/PhD level)

1. PGT-M (0552U)
   This is for families at known risk of a single-gene disorder (like cystic fibrosis or Tay-Sachs).

   • Uses linkage analysis and sometimes targeted mutation detection.

   • Results indicate whether an embryo is high-risk or low-risk for inheriting the disorder.

2. PGT-A PLUS (0553U)
   This version adds copy number analysis across all chromosomes (aneuploidy), structural chromosome rearrangements, and a mitochondrial DNA (mtDNA) score, which is sometimes used as a proxy for embryo viability.

   • Does not report ploidy status or embryo QC.

3. PGT-SR (0554U)
   Focuses on structural abnormalities, aneuploidy, and ploidy anomalies (e.g., triploidy, haploidy), along with embryo quality control:

   • QC flags include contamination detection or inconsistent genetic profiles across an embryo cohort.

4. PGT-SR PLUS (0555U)
   The most comprehensive test, combining:

   • Structural rearrangements

   • Aneuploidy and Ploidy

   • mtDNA score

   • Embryo quality control

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How to Think About It

• PGT-M = Mendelian

• PGT-A = Aneuploidy

• PGT-SR = Structural Rearrangements + broader genome QC

• PGT-SR PLUS = Everything but the kitchen sink

These are all proprietary tests, coded under the 0X5XU series for PLA codes (Proprietary Laboratory Analyses), meaning each is tied to a specific lab (here, Igenomix).