Product introduction

Based on many years of clinical research and case accumulation of ophthalmic genetic diseases, ZhongyinMedical has developed a genetic diagnosis panel for hereditary eye diseases applied to target sequence capture and high-throughput sequencing, comprehensively covering more than 1,000 genes causing ophthalmic genetic diseases, and constantly iterating in combination with the latest cutting-edge developments. Due to the addition of common intron region mutations (such as USH2A gene and ABCA4 gene) to the new generation panel, to make up for the shortage of conventional exon capture sequencing, to assist the special structural regions of related genes formulated according to the symptoms of patients (can not be detected by the second generation sequencing), and to combine the self-developed biological information analysis software and process. As well as specialized CNV prediction and impenetrability analysis, comprehensively improve the detection rate. It is used for auxiliary diagnosis, differential diagnosis and prenatal screening of ophthalmic genetic diseases.

Product parameter

Sample collection：5ml venous blood was stored and transported by EDTA anticoagulant tube

Acquisition platform：Agilent SureSelect

Sequencing strategy：PE150

Project cycle：30 working days

Product advantage

High degree of professionalism：First-line genetic disease experts participate in the test panel design, focusing on the in-depth detection of ophthalmic genetic disease; Professional team for many years of basic research and clinical cases, database accumulation of ophthalmic genetic diseases; Gene detection in combination with gene therapy for ophthalmic genetic diseases.

High coverage：The panel design comprehensively covers the gene exon regions associated with eye disease; Intron region supplement probe with pathogenic variation of specific gene; For the special structural regions with pathogenic variation of individual genes, which can not be detected by second-generation sequencing; CNV prediction analysis based on panel capture sequencing data; The detection rate of genetic eye diseases was comprehensively improved by specialized impenetrability analysis of dozens of genes.

Fertility risk assessment and recommendations：The test report assesses genetic risk for patients and provides risk tips for third generation IVF (PGT).

项目流程

Patient Information：The proband, male, 22 years old, has had poor visual acuity in both eyes since childhood, affecting both day and night. The best corrected visual acuity is 0.06, and no similar patients have been found in the family. The parents are not consanguineous.

Clinical diagnosis：Stargardt illness

Genetic testing：The results showed that the patient carried a compound heterozygous mutation in the ABCA4 gene and a compound heterozygous mutation in the USH2A gene, and their clinical phenotype was an overlap of autosomal recessive Stargardt disease and autosomal recessive retinitis pigmentosa symptoms. This patient carries two different pathogenic genes, which is rare in clinical practice。

From the family chart, it can be seen that, ABCA4&USH2AThe inheritance of both genes is autosomal recessive, and the father and mother of the proband are carriers of the two pathogenic genes respectively. Neither of the proband's parents is ill. However, both pathogenic genes in the proband are compound heterozygous, so the proband presents clinical symptoms of a combination of the two diseases.