MOLECULAR GENETICS

IMMD provides uncommon spectrum of genetic investigations covering variety of current-day clinical demands.  Comprehensive approach in task solving and extensive list of assays we use allow us to examine and diagnose sizable amount of hereditary and aquired diseases related to gene alterations.

IMMD provides genetic tests based on PCR/qPCR, NGS, Sanger DNA sequencing, MLPA and other assays that include:

PRENATAL DIAGNOSTICS

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PRE-IMPLANTATION GENETIC SCREENING (PGS)

 We perform conclusive and informative NGS-based pre-implantation genetic screening of embryo trophectoderm cell or blastomere samples for aneuploidy prior implantation within 10-14 working days

NONINVASIVE PRENATAL GENETIC TESTING (NIPT)

Noninvasive investigation of fetal DNA in pregnant woman blood for highly-precise detection of fetal chromosomal aneuploidies

CARDIO-PANEL

NGS sequencing and bioinformatic analysis of 174 genes associated with 17 cardiovascular diseases:

  • Aortic Valve Disease
  • Marfan Syndrome
  • Loeys-Dietz Syndrome
  • Short QT Syndrome
  • Catecholaminergic Polymorphic Ventricular
  • Tachycardia (CPVT)
  • Familial Hypercholesterolemia
  • Restrictive Cardiomyopathy
  • Non-Compaction Cardiomyopathy
  • Noonan Syndrome
  • Arrhythmogenic Right Ventricular
  • Cardiomyopathy (ARVC)
  • Brugada Syndrome
  • Structural Heart Disease
  • Long QT Syndrome
  • Familial Aortic Aneurysm
  • Familial Atrial Fibrillation
  • Hypertrophic Cardiomyopathy
  • Dilated Cardiomyopathy

ONCOPANEL

NGS sequencing and bioinformatic analysis of 26 genes

BARD1, BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, TP53, MRE11A, RAD50, NBN, FAM175A, ATM, PALB2, STK11, MEN1, PTEN, CDH1, MUTYH, CHEK2, BLM, XRCC2, EPCAM, MLH1, MSH6, PMS2, MSH2

for exact preliminary assessment of the genetic predisposition for development of BREAST, OVARIAN, PROSTATE, PANCREATIC GLAND, PARATHYROID, KIDNEY, BODY OF UTERUS, COLON AND STOMACH TUMORS

HEREDITARY HEMOCHROMATOSIS

  • Basic diagnostics HFE-C282Y/-H63D genotyping

HEMOSTASEOLOGY

  • Hyperhomocysteinemia. Methylenetetrahydrofolate reductase (MTHFR)
  • Deep vein thrombosis. Prothrombin G20210A gene mutation
  • Factor V Leiden-mutation

METABOLIC DISEASES

  • Lactose intolerance LCT

INFECTIOUS DISEASES

 

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