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GTR Home > Tests > CDKN1C Gene, Full Gene Analysis

Overview

Test order codeHelp: CDKZ

Test name

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CDKN1C Gene, Full Gene Analysis (CDKZ)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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https://www.mayocliniclabs.com/test-catalog/Specimen/35385
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Cord blood
Fibroblasts
Peripheral (whole) blood
Skin

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. - PubMed ID: 10424811
  • Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects. - PubMed ID: 11813134
  • CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms. - PubMed ID: 20503313
  • Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. - PubMed ID: 22634751
  • Novel mutation points to a hot spot in CDKN1C causing Silver-Russell syndrome. - PubMed ID: 33076988

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously, Order code: CDKZ

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