GTR Home > Tests > SLC9A6 sequencing

Overview

Test name

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SLC9A6 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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1condition 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 tested

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

Genes and variants

Clinical validity

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Mutations of the SLC9A6 [OMIM #300231] gene have been identified in patients with X-linked mental retardation with features similar to Angelman syndrome. SLC9A6 has 16 coding exons and is ubiquitously expressed, with the highest expression in mitochondrion-rich tissues such as brain and skeletal muscle. It is thought that the SLC9A6 protein product, the Na+/H+ exchanger protein NHE6, is important for sodium/hydrogen exchange as well as normal mitochondrial function.

Citations
  • 1. Christianson A, et al. “X-linked severe mental retardation, craniofacial dysmorphology, ophthalmoplegia, and cerebellar atrophy in a large Sough African kindred is localised to Xq24-q27”. (1999). J. Med. Genet. 36:759-766. 2. Gilfillan G, et al. “SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy and ataxia, a phenotype mimicking Angelman syndrome”. (2008). Am. J. Hum. Genet. 82:1003-1010. 3. Numata M, et al. “Identification of a mitochondrial NA+/H+ exchanger”. (1998). J. Biol. Chem. 273:6951-6959.

Clinical utility

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Establish or confirm diagnosis

Citations
  • 1. Christianson A, et al. “X-linked severe mental retardation, craniofacial dysmorphology, ophthalmoplegia, and cerebellar atrophy in a large Sough African kindred is localised to Xq24-q27”. (1999). J. Med. Genet. 36:759-766. 2. Gilfillan G, et al. “SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy and ataxia, a phenotype mimicking Angelman syndrome”. (2008). Am. J. Hum. Genet. 82:1003-1010. 3. Numata M, et al. “Identification of a mitochondrial NA+/H+ exchanger”. (1998). J. Biol. Chem. 273:6951-6959.

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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