GTR Home > Tests > EBP sequencing

Overview

Test name

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EBP 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 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Mutations of the EBP [OMIM #300205] gene, or emopamil binding protein, have been identified in patients with CDPX2. EBP has 4 coding exons, and more than 55 mutations have been identified. No clear genotype-phenotype correlations have been reported, most likely due to random X-inactivation. This sterol-?8-?7-isomerase gene is the human homolog of tattered (Td) in mice. Affected hemizygous Td male mice die prenatally, and affected heterozygous Td female mice are dwarfed, exhibit hyperkeratotic eruption very early in life that resolves, and have similar biochemical findings as heterozygous EBP humans.

Citations
  • 1. Herman GE. “Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes”. (2003) Human Molecular Genetics 12: R75-R88. 2. Derry JMJ, et al. “Mutations in a delta8-delta7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia puntata”. (1999) Nat Genet 22:286-90. 3. Braverman N, et.al. “Mutations in the gene encoding 3?-hydroxysteroid-?8, ?7-isomerase cause X-linked dominant Conradi-Hunermann syndrome”. (1999) Nat Genet 22:291-94.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Maternally inherited diabetes and deafness in a North American kindred: tips for making the diagnosis and review of unique management issues. - PubMed ID: 17018649
  • Molecular etiology of factor VIII deficiency in hemophilia A. - PubMed ID: 7728145

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

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