Classic view of this page
Monogenic Kidney Stone Panel
Research Genetic test
Help
offered by
Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center
GTR Test Accession: Help GTR000562146.8
INHERITED DISEASEURINARY SYSTEM DISEASEMETABOLIC DISEASE ... View more
Last updated in GTR: 2024-09-09
View version history
Last annual review date for the lab: 2024-09-09 LinkOut
At a Glance
Conditions (21): Help
Hyperoxaluria; Adenine phosphoribosyltransferase deficiency; Autosomal dominant hypophosphatemic rickets more...
Genes (170): Help
ABCC6 (16p13.11); ABCG2 (4q22.1); ACLY (17q21.2); ACO2 (22q13.2); ADCY10 (1q24.2) more...
Study description: Help
We have developed a next generation sequencing (NGS) panel of …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Participants meet at least ONE of the following criteria: • …
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Name: Help
Characterization of Monogenic Kidney Stone Diseases
Protocol number: Help
17-005513
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
We have developed a next generation sequencing (NGS) panel of ~170 genes associated or as candidates for kidney stone disease. Gene capture is performed using the NEBNext Ultra DNA Library Preparation kit (Illumina) in an automated way on a Bravo workstation and pooled libraries are then sequenced on a NovaSeq … View more
Study type: Help
Observational study
Offered by: Help
Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center
Person responsible for the study: Help
Peter Harris, Lab Director
Study contact: Help
Peter Harris, Lab Director
Research contact policy: Help
e-mail: rarekidneystones@mayo.edu or call: 1-800-270-4637
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Participants meet at least ONE of the following criteria: • Patients <18yrs with a history of kidney stones, and/or nephrocalcinosis OR • Patients >18yrs with a history of kidney stones, and/or nephrocalcinosis and at least one of the following:  Family history of stones or nephrocalcinosis or unexplained kidney failure … View more
Consent form: Help
Not provided
Conditions Help
Total conditions: 21
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 170
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)
Agilent 2100 Bioanalyzer
Agilent SureSelect
Covaris S2 Sonicator
Technical Information
Test Confirmation: Help
This testing is performed on a research basis and not in a clinical laboratory. For definitive confirmation of any diagnosis, it is recommended that research results be confirmed by CLIA approved (or equivalent) laboratory setting.
Test Comments: Help
no cost to the patient for tests and procedures done strictly for this research study (blood draw or buccal cell collection)
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.