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GTR Home > Tests > Imprinting ceneter (IC) deletion analysis

Overview

Test name

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Imprinting ceneter (IC) deletion analysis

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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How to order

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All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Amniocytes
Amniotic fluid
Buccal swab
Cell culture
Chorionic villi
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Peripheral (whole) blood
Product of conception (POC)
Saliva

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Imprinting defects (2-5% of cases) in Angelman syndrome. Defects in the imprinting center (IC) at 15q11-q13 can change the methylation patterns and subsequent transcription activity of the genes within that region. Deletions of the IC region occur in 10-40% of patients with an IC defect and occur more frequently in familial cases. Epigenetic defects of the IC region are thought to comprise the remaining patients in this category and occur in sporadic cases. Patients in this group have a phenotype similar to those in the UPD group. 2-5% of patients with PWS have an imprinting center (IC) abnormality of which 10-40% are deletions of the IC region. A recurrence risk of up to 50% applies to the IC deletion group and a low recurrence risk of less than 1% applies to the remainder of the IC abnormality group.

Citations
  • 1. Williams C, et al. “Angelman syndrome 2005: Updated consensus for diagnostic criteria”. (2006) Am J Med Genet. 140A:413-418. 2. Huibregtse J, et al. “Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53”. (1993) Mol Cell Biol. 13(2):775-84. 3. Williams C. “Angelman syndrome.” (2005). In: S. Cassidy and J. Allanson, eds. Management of Genetic Syndromes (2nd ed.). John Wiley & Sons. Hoboken, NJ. 4. Lossie A, et al. “Distinct phenotypes distinguish the molecular classes of Angelman syndrome”. (2001) J Med Genet. 38:834-845. 5. Fang P, et al. “The spectrum of mutations in UBE3A causing Angelman syndrome”. (1999) Hum Mol Genet. 8(1): 129-135. 6. Hosoki K, et al. “Germline mosaicism of a novel UBE3A mutation in Angelman syndrome”. Am J Med Genet 138A:187-189. 7. Gilfillan G, et al. “SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy and ataxia, a phenotype mimick

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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.