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GTR Home > Tests > Uniparental Disomy

Overview

Test order codeHelp: UNIPD

Test name

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Uniparental Disomy (UNIPD)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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Click Indication tab for more information.

How to order

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https://www.mayocliniclabs.com/test-catalog/Specimen/35566
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Chorionic villi
Cord blood
Peripheral (whole) blood

Methodology

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Molecular Genetics
UUniparental disomy study (UPD)
Polymerase Chain Reaction (PCR)/Microsatellite markers

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Engel E: A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet. 2006 Nov;14(11):1158-1169; PMID 16724013.
  • Kotzot D, Utermann G: Uniparental Disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet. 2005;136A:287-305; PMID 15957160.
  • Kotzot D: Prenatal testing for uniparental disomy: indications and clinical relevance. Ultrasound Obstet Gynecol. 2008:31:100-105; PMID 18059071.
  • Schaffer LG, Agan N, Goldberg JD, et al: American College of Medical Genetics statement on diagnostic testing for uniparental disomy. Genet Med. 2001;3:206-211; PMID 11388763.

Clinical validity

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Not provided

Test services

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

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