FRAXE syndrome (FMR2)

Disorder FRAXE syndrome
Gene Name AFF2
Clinical info Expansions of a polymorphic (CCG) repeat in the AFF2 gene have been associated with a phenotype of mild intellectual disability and severe language delay. FRAXE disorder has no distinct dysmorphology, making clinical diagnosis difficult. Females with AFF2 expansions are typically normal, suggesting that this disorder may follow an X-linked pattern of expression.  Our laboratory offers analysis for male patients only. Females with a confirmed family history may also be submitted for detecting carrier status with prior approval.
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 3 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is confirmed. 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 81479
Cost $250
Contact For further information contact Kellie King, MS, Lab Counselor 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.

Find out more