Characteristics of the test: (includes one hotspot area):
RPGR-ORF15 (OMIM #312610)
Basic characteristics of the clinical phenotype
Ciliopathies are rare, inherited diseases associated with disorders in the structure and function of cilia – these are whip-like structures on the surface of cells that allow them to communicate with neighboring cells and sense changes in their environment. Their structure is complex, and their construction and operation involve interaction between different types of protein molecules, each encoded by different genes.
Reasons for referring:
Ø Diagnosed for ciliopathy
Ø Doubts of ciliopathy
The genetic analysis for carrying pathogenic variants in the studied panel of genes for ciliopathies helps to clarify or confirm an already established diagnosis, to develop an individual approach to therapy, to predict the development and assess the individual risk of affecting other organs and systems.
Within the family, carrier data allow genetic counseling to be carried out among close relatives of the affected individual, which is of great importance for family planning.
Method: Next-generation sequencing.
The method involves bi-directional DNA sequencing of all coding exons and intron-exon boundaries of target genes. The laboratory offers Sanger sequencing of a single exon or a pair of exons in the patient's relatives to determine the carrier status in cases where the mutation is known (Test #182).
Sensitivity of the method: depends on the content of GC and AT, as well as the presence of segmentally duplicated genes.
What does the test involve?
· DNA isolation and sample storage.
· Next generation sequencing.
· Bioinformatic analysis of sequencing data. For each patient, only data for the gene(s) of interest were analyzed.
· Forming a written result of the genetic test.
· Diagnostic interpretation of results and genetic counseling.
Biological material: Venous blood or DNA
For more information, please read the "Biological material requirements and shipping information" carefully.
