Klippel-Feil syndrome (KFS) is a genetically heterogeneous disorder characterized by variable degrees of bony fusion in the cervical vertebra. KFS patients may have spinal instability, disc degeneration, scoliosis, malformation of laryngeal cartilage with vocal impairment, cleft palate, facial dysmorphism, and limb and hand abnormalities. Sprengel anomaly and sensorineural, conductive or mixed hearing impairment are common. The clinical triad of short neck, low posterior hairline and limited neck movement is observed in less than 50% of KFS patients.
The Klippel-Feil syndrome NGS panel consists of five genes: GDF3, GDF6, MEOX1, MYO18B and RIPPLY2.
Copy number variation (CNV) analysis of the Klippel-Feil syndrome genes is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated.