ARX-related Spectrum of X-Linked Intellectual Disability Gene Sequencing

Disorders Non-syndromic X-linked intellectual disability, West syndrome, Partington syndrome, X-linked hydrocephalus with ambiguous genitalia (XLAG)
Gene Name ARX
Clinical info 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 mutation within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests ARX sequencing is also included as a part of the X-Linked Intellectual Disability gene sequencing panel.
Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping.  FedEx is preferred.  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.
Turnaround time 6 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is 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.
CPT Codes Unknown mutation: 81404

Known mutation: 81403

Deletion/Duplication Analysis: 81229
Cost $900 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

$1000 for prenatal known mutation
Contact For further information contact This email address is being protected from spambots. You need JavaScript enabled to view it. , MS, Lab Counselor at 1-800-473-9411.

Molecular Diagnostic Lab

The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.

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