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
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

Deletion/Duplication Analysis: 81405
Cost $1000 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

Prenatal diagnosis for known mutation is $1000.  Please contact the laboratory for more information.

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.

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.

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