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Genes involved in FSGS, NS, and related conditions
Research Genetic test
Help
offered by
Laboratory of Inherited Kidney Disease
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GTR Test Accession: Help GTR000529072.1
URINARY SYSTEM DISEASEINHERITED DISEASESYNDROMIC DISEASE ... View more
Registered in GTR: 2015-12-30
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Last annual review date for the lab: 2023-11-03 Past due LinkOut
At a Glance
Conditions (11): Help
Focal segmental glomerulosclerosis; Familial idiopathic steroid-resistant nephrotic syndrome; Finnish congenital nephrotic syndrome more...
Genes (5): Help
ACTN4 (19q13.2); APOL1 (22q12.3); INF2 (14q32.33); NPHS2 (1q25.2); TRPC6 (11q22.1)
Study description: Help
Genetic causes of FSGS, Nephrotic syndrome, and/or kidney failure
Recruitment status: Help
Currently open
Eligibility criteria: Help
Anyone can participate (with or without kidney disease)
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Research
Study Description
Name: Help
Molecular Genetic Analysis of Inherited Kidney Dysfunction
ClinicalTrials.gov identifier: Help
NCT02194582
Protocol number: Help
2009P-000430
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Genetic causes of FSGS, Nephrotic syndrome, and/or kidney failure
Study aims and hypotheses: Help
We are trying to learn more about the cause of FSGS, Nephrotic syndrome, and/or kidney failure by studying genetics.
Study type: Help
Observational study
Offered by: Help
Laboratory of Inherited Kidney Disease
Person responsible for the study: Help
Martin Pollak, MD, Lab Director
Study contact: Help
Andrea Knob, MS, Genetic Counselor
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Anyone can participate (with or without kidney disease)
Recruiting sites: Help
Worldwide
Consent form: Help
Consent Form
Conditions Help
Total conditions: 11
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
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
Research
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

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