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PAH sequencing
Clinical Genetic Test
Help
offered by
University of Minnesota Physicians Outreach Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000027152.2
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2021-04-28
View version history
Last annual review date for the lab: 2024-05-10 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Conditions (1): Help
Phenylketonuria
Genes (1): Help
PAH (12q23.2)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Individuals with PKU. Family members of individuals with PKU.
Clinical validity: Help
Will detect ~95% of disease mutations
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
University of Minnesota Physicians Outreach Laboratory
View lab's website
View lab's test page
Specimen Source: Help
  • Amniocytes
  • Chorionic villi
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
PAH sequencing
View other test codes
Lab contact: Help
Matthew Bower, MS, Certified Genetic counselor, CGC, Genetic Counselor
mbower1@fairview.org
612-624-8948
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Risk Assessment
Clinical validity: Help
Will detect ~95% of disease mutations
View citations (1)
  • Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. Guldberg P, et al. Am J Hum Genet. 1996;59(1):84-94. PMID: 8659548.
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Individuals with PKU. Family members of individuals with PKU.
View citations (1)
  • Phenylalanine hydroxylase gene mutations in the United States: report from the Maternal PKU Collaborative Study. Guldberg P, et al. Am J Hum Genet. 1996;59(1):84-94. PMID: 8659548.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided.
Recommended fields not provided:
What is the protocol for interpreting a variation as a VUS?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed both in-house and at an outside lab

Test performance comments
Next gen sequencing performed at facility with separate CLIA license. Both facilities are part of the U of MN, Fairview.
Analytical Validity: Help
Will detect>99% of mutations in PAH gene
View citations (1)
  • www.pahdb.mcgill.ca
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory
VUS:
Laboratory's policy on reporting novel variations Help
All novel variations are reported and family studies recommended.
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.