ARPKZ - Overview: Autosomal Recessive Polycystic Kidney Disease (ARPKD), Full Gene Analysis

Test Catalog

Test Name

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

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

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

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

Testing Algorithm Delineates situation(s) 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 and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

Polymerase Chain Reaction (PCR) Followed by DNA Sequencing Analysis

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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

Yes

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

ARPKD Full Gene Analysis

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

ARPKD
PKHD1
Polycystic Kidney Disease (PKD)