Test Catalog

Test ID: ARPKZ    
Autosomal Recessive Polycystic Kidney Disease (ARPKD), Full Gene Analysis, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of individuals suspected of having autosomal recessive polycystic kidney disease (ARPKD)

 

Prenatal diagnosis if there is a high suspicion of ARPKD based on ultrasound findings

 

Carrier testing of individuals with a family history of ARPKD but an affected individual is not available for testing or disease-causing mutations have not been identified

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test includes next-generation sequencing to evaluate for mutations in the PKHD1 gene. Sanger sequencing may be performed to confirm detected variants.

Reflex Tests Lists tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo
CULAFAmniotic Fluid Culture/Genetic TestYesNo
MATCCMaternal Cell Contamination, BYesNo

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (nonconfluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately. For any prenatal specimen that is received, maternal cell contamination studies will be added.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing (NGS) followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing when appropriate

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

ARPKD Full Gene Analysis

Aliases Lists additional common names for a test, as an aid in searching

ARPKD
PKHD1
Polycystic Kidney Disease (PKD)
Next Gen Sequencing Test