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Monogenic causes of nephronophthisis and related ciliopathies
Research Genetic test
Help
offered by
Hildebrandt Laboratory
GTR Test Accession: Help GTR000528068.2
INHERITED DISEASEURINARY 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 (7): Help
Nephronophthisis; Autosomal dominant polycystic kidney disease; Autosomal recessive polycystic kidney disease more...
Genes (93): Help
AHI1 (6q23.3); ALMS1 (2p13.1); ANKS6 (9q22.33); ARL13B (3q11.1-11.2); ARL6 (3q11.2) more...
Study description: Help
Mutational analysis study to investigate monogenic causes of nephronophthisis.
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
Mutational analysis study to investigate monogenic causes of nephronophthisis.
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: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 93
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
Test Procedure: Help
Confirmation by Sanger sequencing
Test Confirmation: Help
Confirmation by Sanger sequencing
Additional Information

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