GTR Home > Tests > SLC9A6 deletion/duplication analysis


Test name


SLC9A6 deletion/duplication analysis

Purpose of the test


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



1 condition tested. Click Indication tab for more information.


Molecular Genetics
DDeletion/duplication analysis
Comparative Genomic Hybridization

Summary of what is tested

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


Clinical validity


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.

  • 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


Not provided

How to order


•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:

Test services

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

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