Congenital Rett Syndrome Variant (FOXG1)
| Disorder | Congenital Rett syndrome Variant | |
| Gene Name | FOXG1 | |
| Clinical info | Mutations in the FOXG1 gene at 14q12 have been identified in patients with the congenital variant of Rett syndrome. FOXG1 and MECP2 are hypothesized to share a common molecular mechanism during neuronal development. Appropriate candidates for FOXG1 testing may include both males and females who meet the diagnostic criteria for Rett syndrome variant phenotypes, particularly those with onset at or shortly after birth and/or those with a negative MECP2 testing. | |
| 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 | Rett/Angelman syndrome 2nd tier panel includes FOXG1 Rett syndrome (MECP2) sequencing Rett syndrome (MECP2) deletion/duplication testing |
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| 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 |
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| Cost | $1000 for sequencing $350 for known mutation |
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| 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. | |
Form Needed
Download molecular-lab-request-form.pdf
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Kellie King, 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.