- FRAXE, FMR2
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
Special Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice. The eligibility for this test is determined by the presence of a family history suggestive of X-linked intellectual disability; a pedigree must be provided for Fragile X E testing.
FRAXE is a form of non-syndromic X-linked intellectual disability characterized by mild intellectual disability. The FRAXE phenotype is quite variable, and tends to include slow learning, hyperactivity, attention problems and language delay. The gene associated with FRAXE is called FMR2. The normal gene contains a three base pair sequence, which is repeated on each X chromosome (called a CCG repeat). The principal mutation causing FRAXE is an expansion of the CCG repeat sequence within the FMR-2 gene.
See related information sheet: FRAXE Molecular Analysis
Fragile X E Syndrome
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