KLIPPEL-FEIL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 5 genes

LabGenetics
Caja de KLIPPEL-FEIL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 5 genes

Delivery time

3-4 weeks

Sample

Blood

850,00€
Caja de KLIPPEL-FEIL SYNDROME: CLINICAL EXOME PANEL (Sec. & CNVs) - 5 genes

Klippel-Feil syndrome is characterized by the congenital fusion of the cervical vertebrae, resulting in a short neck, limited mobility, and a low hairline. In some cases, it is associated with cardiac, renal, auditory, and skeletal malformations. Genetic causes include alterations in genes involved in somite formation and segmentation during embryonic development, such as GDF3, GDF6, MEOX1, MYO18B, and PAX1. This panel allows for confirmation of the molecular diagnosis, establishment of the inheritance pattern, and guidance of multidisciplinary follow-up. Genes analyzed: GDF3, GDF6, MEOX1, MYO18B, PAX1.

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