PAX2 sequencing
GTR Test Accession: Help GTR000282123.1
INHERITED DISEASEDYSMORPHOLOGYREPRODUCTIVE HEALTH ... View more
Last updated in GTR: 2013-05-24
Last annual review date for the lab: 2024-05-10 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic
Renal coloboma syndrome; Renal hypoplasia
Genes (1): Help
PAX2 (10q24.31)
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Individuals with suspected renal coloboma syndrome (RCS); family members of …
Not provided
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
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Registered Nurse
Test Order Code: Help
PAX2
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
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
Test strategy: Help
Sequencing of coding region and intron/exon boundaries.
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Conditions Help
Total conditions: 2
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; Pre-symptomatic
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat. 2012;33(3):457-66. doi:10.1002/humu.22020. Epub 2012 Jan 31. PMID: 22213154.

Target population: Help
Individuals with suspected renal coloboma syndrome (RCS); family members of individuals with RCS.
View citations (1)
  • Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database. Hum Mutat. 2012;33(3):457-66. doi:10.1002/humu.22020. Epub 2012 Jan 31. PMID: 22213154.
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.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Test development & QC. Patients can consent to be part of registry used to submit data to LSDB.
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed at an outside lab

Test performance comments
Sequencing performed at separate on-site facility with a different CLIA certification
Analytical Validity: Help
Will detect >95% of mutations associated with RCS. Will detect causative mutations in >99% of individuals with PAX2-related RCS.
View citations (1)
  • www.lovd.nl/PAX2
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
Novel variations are reported and family studies recommended.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

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