Analyzes of chromosome and genetic diseases

Classical chromosome analysis can be offered to patients who have had amniocentesis or chorionic biopsy.   This analysis i dentifies chromosmal diseases seen under a microscope, including changes in the number of chromosomes (Down syndrome,...

Interphase FISH analysis (iFISH) can be offered to patients who have had amniocentesis or chorionic biopsy.   iFISH is quick analysis whic i dentifies chromosmal diseases seen under a microscope, including changes in the number of chrom...

Submicroscopic chromosome analysis (CMA analysis) can be offered to patients who have had amniocentesis or chorionic biopsy.   Besides chromosomal diseases diagnosed by classical chromosome analysis under a microscope, this modern chromosom...

Gene sequencing panels with the NGS method (NGS analysis) can be offered to patients who have had amniocentesis or chorionic biopsy.   Provides information about the smallest units of chromosomes –genes. The analysis of 6,700 genes this test can...

An analysis of the diagnosis of spinal muscular atrophy can be offered to patients who have had amniocentesis or chorionic biopsy.   Spinal muscular atrophy or SMA is one of the most common fatal childhood genetic diseases. The incidence rat...

An analysis of the diagnosis of fragile X syndrome can be offered to patients who have had amniocentesis or chorionic biopsy.   Fragile X syndrome or FXS is the most common monogenic genetic disease causing intellectual disability. The inc...

The cost of the study includes contamination of the chorion and/or amnion cells with maternal material. The cost of a chorionic biopsy or amniocentesis is added to the price.