Aarskog Syndrome (FGD1) Sequencing
| Disorder | Aarskog syndrome | |
| Gene Name | FGD1 | |
| Clinical info | 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. | |
| 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. | |
| 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: 81479 Known mutation: 81403 Deletion/Duplication Analysis: 81479 |
|
| Cost |
$1500 for sequencing |
|
| Contact | For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411. | |
Form Needed
Download molecular-lab-request-form.pdf
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 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.