Tesis Biosciences offers both an individual connective tissue panel and a comprehensive panel. Inherited connective tissue disorders are frequently caused by an aberration in a gene involved in the structure or function of connective tissue. If no pathogenic aberrations are detected by NGS, deletion/duplication analysis is performed to identify partial or whole gene deletions and duplications in the associated genes.

Here are a few of the most common reason for the Connective Tissue Panel

• Joint issues: hypermobility, dislocation, chronic pain
• Skin findings: cutis laxa, abnormal or atrophic scars, poor wound healing, spontaneous bruising, thin, translucent, highly elastic, velvety
• Tissue fragility: inguinal and umbilical hernia, hiatal and incisional hernia, rectal prolapse in early childhood
• Auditory: hearing loss, hypermobile tympanic membranes
• Ocular findings: ectopia lentis, myopia, retinal detachment, scleral fragility and rupture of the ocular globe, characteristic vitreous changes or retinal abnormalities
• Facial features: malar hypoplasia, broad or flat nasal bridge, micro/retrognathia, cleft palate
• Pneumothorax, hemopneumothorax
• Cardiovascular findings: congenital heart defect, mitral valve prolapse, aortic root enlargement, thoracic aneurysm, aortic dissection, other aneurysms/dissections, extra-aortic vascular events, arterial tortuosity