Aarskog Syndrome: FGD1 Sequencing

Test Information

FGD1 sequencing is a molecular test used to identify variants in the gene associated with Aarskog syndrome. This molecular test is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Turnaround Time

6 weeks

CPT Code(s)

81479

Cost

$1,500

Genes

  • FGD1

Clinical Information

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.

Methodology

Sanger Sequencing

Specimen Requirements

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.

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
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

Mother and son

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The lobby of the JC Self Research Institute at GGC was transformed into a garden – of sorts. The art exhibit titled ‘Rare Roses’ consisted of 12 paintings that depict real roses with genetic variations. The series was created by Nicole Shannon, an artist from Greenville. Nicole was inspired by her son, who has a rare genetic disorder, and other individuals with genetic differences. Quinn, now 4, was born with a myriad of health issues and ...

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