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GTR Home > Tests > Uniparental Disomy

Overview

Test name

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Uniparental Disomy (UPD)

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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Samples should be submitted with the appropriate requisition form (DNA test request form). Samples are received Monday through Saturday. For DNA testing blood should be collected in EDTA or ACD tubes; cultured prenatal specimens.

Specimen source

Amniocytes
Amniotic fluid
Cell culture
Chorionic villi
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Paraffin block
Peripheral (whole) blood
Product of conception (POC)

Methodology

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Molecular Genetics
TTargeted variant analysis
PCR

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling
  • Prenatal testing
  • FISH Analysis
  • Drug Metabolism testing
  • Cytogenetics Analysis
  • Maternal Serum Screening
  • Uniparental Disomy (UPD) Testing
  • X-Chromosome Inactivation Studies

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.