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CAKUT
Research Genetic test
Help
offered by
Hildebrandt Laboratory
GTR Test Accession: Help GTR000527863.2
INHERITED DISEASEDYSMORPHOLOGYURINARY SYSTEM 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
Congenital anomalies of kidney and urinary tract 1; Congenital anomaly of kidney and urinary tract
Genes (204): Help
ACE (17q23.3); ACTB (7p22.1); ACTG1 (17q25.3); AGT (1q42.2); AGTR1 (3q24) more...
Study description: Help
Mutation analysis
Recruitment status: Help
Currently open
Eligibility criteria: Help
Not provided
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Whole Exome Sequencing
Study Description
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Mutation analysis
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: 204
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
Whole Exome Sequencing
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information
Consumer resources:

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