FMR1 CGG Repeat Analysis and Methylation Analysis

Fragile X syndrome is characterized almost always by moderate intellectual disability in males and mild intellectual disability in females as well as characteristic facial features, joint laxity, and behavioral problems.

This laboratory uses the technology of Asuragen PCR, which is more sensitive and accurate than Southern blot. It is capable of detecting a range of variations including normal alleles and permutations that start with ~55 repeats, up to full mutations of more than 1,000 CGG repeats. Samples found to be potentially abnormal are retested with methylation PCR to confirm repeat length and also to determine methylation status of the repeat region.

Forms & Docs

Ordering

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Test Code
T0220

Turn Around Time
2-3 weeks

Billing

CPT Code
81243×1

Ordering Guidance

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
FMR1

Methods
Asuragen PCR