Genetic researches

Genetic research can detect various genetic and chromosomal diseases. In certain cases, only genetic diagnosis makes it possible to establish a diagnosis and choose the correct medical tactics. The study of genetic information embedded in the DNA of a particular person helps to determinate many diseases or predisposition to them.

General genetic studies

  • Karyotype (chromosomal analysis)
  • Fragile X Chromosome (must be ordered with Chromosome Microarray Analysis)
  • Chromosomal microarray analysis (if necessary with Fluorescent in situ hybridization (FISH))
  • Fragile X Chromosome (must be ordered with Chromosome Microarray Analysis)
  • Non-invasive prenatal examination "Invitae" (NIPS) – Aneuploidy + Microdeletions
  • Invitae Core Carrier Screen (only CFTR, SMN1, FMR1) – Aneuploidy + Microdeletions
  • Extensive Invitae Core Carrier research and Comprehensive gene carrier research
  • Preimplantation Genetic Testing (PGT) (includes PGS/PGT-A and PGT-SR)
  • Pregnancy loss analysis (also named products of conception (POC) analysis)
  • Chromosomal microarray analysis of pregnancy loss

Genetic analysis differs from other types of diagnostics in the maximum accuracy of obtained results

Prenatal diagnosis (CVS/amniocentesis)

  • Prenatal chromosomal microarray analysis (if necessary with Fluorescent in situ hybridization (FISH))
  • Prenatal interphase fluorescence in situ hybridization (FISH) (for 13, 18, 21, X, Y) (must be ordered with karyotype or microarray analysis)
  • Karyotype (chromosomal analysis)
  • Amniotic fluid alpha-fetoprotein (AFP)
  • AChE

Parental research and confirmation

  • The test was carried out
  • Fluorescence in situ hybridization for confirmation**
  • Chromosome microarray analysis of parents
  • Fluorescence in situ hybridization of parents
  • Karyotype of parents (chromosomal analysis)
  • Maternal Cell Contamination (MCC) Study
Get diagnosed or treated in a clinic

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