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Test ID: ARPKM
Autosomal Recessive Polycystic Kidney Disease (ARPKD), Known Mutation

Secondary ID A test code used for billing and in test definitions created prior to November 2011

88912

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

Carrier testing of individuals for ARPKD when familial mutations have been previously identified

 

Diagnostic confirmation of autosomal recessive polycystic kidney disease when familial mutations have been previously identified

 

Prenatal diagnosis when 2 familial mutations have been previously identified in an affected family member

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

Documentation of the specific familial mutation(s) must be provided with the specimen in order to perform this test.

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 IDSecondary IDReporting NameAvailable SeparatelyAlways Performed
FBC80333Fibroblast Culture for Genetic TestYesNo
AFC80334Amniotic Fluid Culture/Genetic TestYesNo

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

Note: This testing algorithm only applies to prenatal testing.

If amniotic fluid (non-confluent cultured cells) is received, amniotic fluid culture/genetic test will be added and charged separately. If chorionic villus specimen (non-confluent cultured cells) is received, fibroblast culture for genetic test will be added and charged separately.

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

ARPKM/88912: Polymerase Chain Reaction (PCR) Followed by DNA Sequencing Analysis

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

FBC/80333, AFC/80334: Cell Culture

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

ARPKD Known Mutation

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

PKD (Polycystic Kidney Disease)
PKHD1
Polycystic Kidney Disease (PKD)