Alpha-thalassemia X-Linked Intellectual Disability XLID : ATR-X Sequencing

Test Information

ATR-X sequencing is a molecular test used to identify variants in the gene associated with Alpha-thalassemia X-Linked Intellectual Disability (XLID).

Turnaround Time

6 weeks

CPT Code(s)

81479

Cost

$1,500

Genes

Clinical Information

Alpha-thalassemia X-linked Intellectual Disbility (ATR-X) is an XLID condition caused by mutations in the ATRX/XNP gene localized to Xq13. Males usually present with moderate intellectual disability and characteristic hypotonic facies, consisting of small head size, depressed nasal bridge, large open mouth, large prominent lips and an inverted upper lip. Carrier females exhibit no features, a result of highly skewed X-inactivation. Males can sometimes exhibit hemoglobin H inclusion bodies but this clinical test is unreliable for diagnosis purposes.

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

Detection

Sequencing of ATR-X will detect a mutation in 95% of individuals with this disorder.

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

Molecular Testing, Sanger Sequencing
Lucy's Story

Lucy's Story

When our daughter Lucy had a metabolic crisis at 7 days old, we were shocked and devastated to find out that she was born with a rare genetic disorder (MSUD). Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her. Calls were made to Greenwood Genetic Center to confirm her diagnosis...

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