In addition, new gene sets have been added to the panel, which can now also be used for precise diagnoses of the following hereditary eye diseases:
 

Congenital nystagmus, X-linked

Congenital nystagmus is characterized by congenital, uncontrolled movements of the eyes, which are also described as jerking or trembling. Eye movement disorders vary greatly in frequency, amplitude, and shape (e.g., pendulum nystagmus) and are sometimes accompanied by visual impairment and disturbances. The X-linked nystagmus usually occurs in the first half-year of life and results from changes in the genes FRMD7 and GPR143.
 

Progressive external ophthalmoplegia

Progressive external ophthalmoplegia manifests in progressive paralysis of the external eye muscles, which severely limits the movement of the eyes. Since eyelid muscles can also be affected, a common sign of the disease is the drooping of one or both eyelids (ptosis). The cause are mitochondriopathies, which are caused by a malfunction or damage to the mitochondria.
 

Congenital cranial dysinnervation syndromes

Congenital cranial dysinnervation syndromes (CCDDs) are a subgroup of incomitant strabismus. It describes strabismus syndromes in which the degree of strabismus depends on the direction of gaze. It is characterized by a non-progressive disturbance of the eye movement (oculomotor function), in some cases accompanied by upper eyelid ptosis, i.e. the drooping of an eyelid. The syndromes are caused by diseases or maldevelopments of eye muscles or eye cavities (orbital diseases) or cranial nerves (cranial nerve paresis). They cause a defective innervation of the muscles.

All CeGaT panels are examined with CeGaT’s large panel approach. We always sequence all genes of a panel and evaluate the requested gene set. If necessary, we can quickly extend the evaluation to other gene sets. This gives you access to the most flexible and cost-efficient differential diagnostics. In addition, we offer a screening of all differential diagnostic relevant genes of the panel for variants of ACMG classes 4 and 5. CeGaT’s panel diagnostics also include the free of charge regular re-evaluation of variants of uncertain clinical significance (VUS) to increase the diagnostic yield further.

We are convinced that all patients should receive the best possible diagnostics. For this reason, our panels routinely examine single nucleotide variation (SNVs) and copy number variants (CNVs) and check for mosaicism. If necessary, we validate pathogenic deletions or duplications using MLPA or qPCR before reporting. The highest quality is our standard.