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Nephrotic Syndrome and Focal and Segmental Glomerulosclerosis
Research Genetic test
Help
offered by
Hildebrandt Laboratory
GTR Test Accession: Help GTR000523187.2
REPRODUCTIVE HEALTHURINARY SYSTEM DISEASESYNDROMIC DISEASE ... View more
Last updated in GTR: 2021-10-28
View version history
Last annual review date for the lab: 2023-02-15 Past due LinkOut
At a Glance
Conditions (2): Help
Nephrotic syndrome; Focal segmental glomerulosclerosis
Genes (61): Help
ACTN4 (19q13.2); ANKFY1 (17p13.2); ANLN (7p14.2); ARHGAP24 (4q21.23-21.3); ARHGDIA (17q25.3) more...
Study description: Help
NS
Recruitment status: Help
Currently open
Eligibility criteria: Help
Not provided
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Study Description
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
NS
Study type: Help
Not applicable
Offered by: Help
Hildebrandt Laboratory
Person responsible for the study: Help
Friedhelm Hildebrandt, MD, Lab Director
Study contact: Help
Friedhelm Hildebrandt, MD, Lab Director
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently open
Consent form: Help
Not provided
Recommended fields not provided:
Eligibility criteria
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 61
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)
Other
Technical Information
Test Procedure: Help
Next generation sequencing
View citations (1)
  • Sadowski CE, Lovric S, Ashraf S, Pabst WL, Gee HY, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers MJ, Tan W, Shril S, Fessi I, Lifton RP, Bockenhauer D, El-Desoky S, Kari JA, Zenker M, Kemper MJ, Mueller D, Fathy HM, Soliman NA, , Hildebrandt F. A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome. J Am Soc Nephrol. 2015;26(6):1279-89. doi:10.1681/ASN.2014050489. Epub 2014 Oct 27. PMID: 25349199.
Recommended fields not provided:
Test Confirmation
Additional Information
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