Aarskog Syndrome: FGD1 Sequencing

Turnaround Time

6 weeks

CPT Code(s)

81479

Cost

$1,500

Genes

• Aarskog syndrome

Aarskog is an X-linked disorder. Affected males present with short stature, hypertelorism, shawl scrotum and joint hyperextensibility. Carrier females tend to be shorter than non-carriers and usually have subtle facial features. Males can have mild cognitive impairment.

Sanger Sequencing

The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. 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.

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 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.