ARX-Related Spectrum of X-Linked Intellectual Disability XLID : ARX Sequencing

Test Information

ARX sequencing is a molecular test used to identify variants in the gene associated with ARX-Related X-Linked Intellectual Disability XLID.

Turnaround Time

6 weeks

CPT Code(s)

81404

Cost

$1,000

Genes

  • ARX

Clinical Information

ARX is an X-linked disorder that can include non-syndromic intellectual disability or a broader phenotype including intellectual disability of West syndrome (infantile spasms), Partington syndrome (dystonic movements, ataxia and seizures) or X-linked hydrocephalus with ambiguous genitalia. ARX is localized to Xp21.1. Two mutations, a 24bp duplication and a 21bp insertion, in exon 2 of ARX account for a significant proportion of the alterations within the gene. Carrier females have no discernable phenotype.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

Sanger Sequencing

Specimen Requirements

The preferred sample type is peripheral blood collected in an EDTA (purple top) tube – at least 2-3ml for pediatric patients and 5-6ml for adult patients. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit. Contact the lab to receive a saliva kit or to have one sent to your patient.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Meet The Jones Family

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered....

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