Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000597550.1
Last updated: 2022-10-11
Test version history
- 597550.1, last updated: 2022-10-11

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Renal tubular dysgenesis of genetic origin
Offered by Invitae

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Recurrence, Risk Assessment, Screening

An instance of renal tubular dysgenesis that is caused by a modification of the individual's genome. [from MONDO]

Imported from Human Phenotype Ontology (HPO)

Anuria
Hypotension
Respiratory insufficiency
Oligohydramnios
Pulmonary hypoplasia
Renotubular dysgenesis
Potter facies
Widely patent fontanelles and sutures
Abnormality of the urinary system
Microcephaly

Show all

Conditions tested

The Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel analyzes genes that are associated with abnormalities of the kidneys and structures of the urinary tract including bladder, ureters, and urethra. CAKUT is a congenital disorder with variable severity and may go undetected until later in life. These genes were curated based on the available evidence to date to provide a broad analysis for inherited congenital anomalies of the kidney and urinary tract. The genetic heterogeneity associated with these conditions can make it difficult to use phenotype as the sole criterion to select a definitive cause. Broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.

Citations

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

MedlinePlus

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.

Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

Indication

Clinical summary

Clinical features