Unit Code 88912:
Autosomal Recessive Polycystic Kidney Disease (ARPKD), Known Mutation
Useful For
Suggests clinical disorders or settings where the test may be helpful
Carrier testing of individuals with a family history of autosomal
recessive polycystic kidney disease
Diagnostic confirmation of ARPKD when familial mutations have
been previously identified
Prenatal testing 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)
| Unit Code | Reporting Name | Available Separately | Always Performed |
| 80333 | Fibroblast Culture for Genetic Test | Yes | No |
| 80334 | Amniotic Fluid Culture/Genetic Test | Yes | No |
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 (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
| • | Molecular Genetics - Congenital Inherited Diseases Patient Information Sheet |
| • | Informed Consent for DNA Testing |
Method Name
A short description of the method used to perform the test
88912: Polymerase Chain Reaction (PCR) Followed by Site-
Specific DNA Sequencing Analysis
(PCR is utilized pursuant to a license agreement with
Roche Molecular Systems, Inc.)
80333, 80334: Cell Culture
Reporting Name
A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
ARPKD Known Mutation
Ordering Mnemonic
An alternate Mayo code (to the Unit Code) for a test
ARPKDKM
Aliases
Lists additional common names for a test, as an aid in searching
ARPKD (Autosomal Recessive Polycystic Kidney Disease)
Autosomal Recessive Polycystic Kidney Disease (ARPKD)
PKD (Polycystic Kidney Disease)
PKHD1
Polycystic Kidney Disease (PKD)
Soft-ARPKM


