Test Catalog

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Test ID: CDKZ    
CDKN1C Gene, Full Gene Analysis

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

Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome

 

Confirming a clinical diagnosis of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies (IMAGe) syndrome

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

Testing includes full gene sequencing of the CDKN1C gene

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

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

If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.

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

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

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

CDKN1C Gene, Full Gene Analysis

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

Beckwith-Wiedemann syndrome (BWS).
BWS (Beckwith-Wiedemann syndrome)
IMAGe syndrome
KIP2
P57
CDKMS