Apert Syndrome Variant Analysis

Apert syndrome features include craniosynostosis, midface hypoplasia, and soft tissue and bony syndactyly of fingers and toes. Less common findings include rhizomelic shortening, fused cervical vertebrae, hydrocephalus, and cardiac or gastrointestinal defects. Approximately 50% of individuals have varying degrees of developmental delay/intellectual disability. This laboratory performs Sanger sequencing of exon 2 of the FGFR2 gene.

Forms & Docs

Ordering

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Test Code
T0106

Turn Around Time
2-3 weeks

 

Billing

CPT Code
81404×1

Ordering Guidance

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

Details

Genes Covered
FGFR2 exon 2

Methods
Sanger