GTR Home > Tests > GPR56 sequencing

Overview

Test name

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GPR56 sequencing

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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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

1 gene and variant. Click Methodology tab for more information.

Genes

Clinical validity

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Mutations of the GPR56 [OMIM #604110] gene, or G-protein coupled receptor 56, have been identified in patients with BFPP. GPR56 has 13 coding exons. It appears to be necessary for human cerebral cortical development and patterning. All reported patients, to date, have homozygous mutations. Piao X, et al [2005] studied patients with BFPP along with some patients with other polymicrogyria syndromes. All 29 patients with BFPP were found to be homozygous for GPR56 mutations. However, no patients without the BFPP cortical distribution or without both white matter and posterior fossa changes were found to mutations in GPR56.

Citations
  • Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. - PubMed ID: 16240336

Clinical utility

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Establish or confirm diagnosis

Citations
  • Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes. - PubMed ID: 16240336

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

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Sequence Analysis
  • 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.

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