Information on Genotype Testing for PAH Mutations

Via the Texas Newborn Screening Program

  • PKU mutational analysis is performed by sequencing the PAH gene. The 13 exons and flanking regions of PAH are amplified by PCR and then sequenced. The test is able to detect approximately 95% of >500 known mutations in the coding region and splice junctions. The turnaround time ranges from 2 to 6 weeks depending on the volume. Specimen types can be either dried whole blood on filter paper or anticoagulated whole blood in purple top EDTA Vacutainer.
  • Although the laboratory is under Texas Newborn Screening program, they do accept and test external specimens for a fee - just enough to cover expenses. Specimens can be submitted on an individual or contract basis. They do not bill patients directly, but are able to bill insurance. If you have questions regarding billing, or to submit a sample, contact is Sue Kaase (sue.kaase@dshs.state.tx.us or 512-458-7111, ext 2658).

Via the University Children's Genetics Laboratory, A Division of ProGene, Inc.