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).
For Technical Questions: Contact Rachel Lee, Ph.D., DNA Analysis Team Leader, Newborn Screening Program, Texas Department of State Health Service
Tel: (512) 458-7158 or email: rachel.lee@dshs.state.tx.us
Via the University Children's Genetics Laboratory, A Division of ProGene, Inc.
PCR-based sequencing technology is used to identify mutations among the 13
exons. This method identifies approximately 99% of mutations, but since it is PCR-based, it will not
detect deletions or rearrangements (if one normal allele is present, its amplification will obscure the
mutant allele). Once the mutations are found, we use a second method such as RFLP or ASO, to
confirm the mutations in the affected patient. If blood specimens are available from the biological
parents, we confirm that the mutations identified are in cis. (Please note: parental results are not
reported without a separate requisition and charge.)
University Children's Genetics Laboratory / Molecular Section. Tel: (818) 548-0999.
For more information contact Toni R. Prezant, Ph.D.,
Director, Molecular Genetics Laboratory,
University Children's Genetics Laboratory, A Division of ProGene, Inc.,
116 E. Broadway,
Glendale, CA 91205,
Tel (818) 548-0999; Fax (818) 548-1555,
e-mail: tprezant@progene.us
