Genetika retkih bolesti
(saradnja sa kompanijom „Gendia“)

Molecular Tests Ordered by Disease

Molecular Tests Ordered by Gene
We offer molecular testing of more than 900 genes involved in monogenic diseases.

Next Generation and Sanger Sequencing Platforms
Platforms for simultaneous molecular testing for many genes involved in heterogeneous diseases

Copy Number Tests

We offer:

  • Quantitative tests for every gene to detect deletions or duplications
  • MLPA tests of all telomeres

Screening Panels

We offer 5 different screening panels, including:

  • Screening panel for Jewish diseases
  • Prenatal screening panel
  • Thrombophilic panel
  • Male infertility panel
  • Recurrent abortion panel

Microarray Testing

We offer 12 different microarrays, including:

  • CGH array for genomic deletions-duplications
  • Mutation microarrays for specific diseases (retinitis pigmentosa, Usher syndrome, Leber amaurosis, Stargardt disease, Bardet-Biedl syndrome, hypercholesterolemia, deafness and Askhenazi Jewish diseases)
  • Pharmacogenetic testing of CYP2D6 and CYP2C19 mutations

Mitochondrial Molecular Tests

We offer analysis of:

  • The complete mitochondrial sequence in a single test
  • Testing of all 37 mitochondrial genes (encoding 22 tRNAs, 2rRNAs and 13 mRNAs)
  • Disease-specific common mutation sets

Molecular Tests for Leukemia and Lymphoma

We offer genetic tests in leukemia and lymphoma, including:

  • Fusion gene tests
  • Gene overexpression tests
  • Oncogenic mutation tests
  • Rearrangements in IGH or T-cell receptor genes

Tests in Tumor Tissue

We offer analysis of tumor DNA for:

  • Microsatellite  instability - MSI
  • Immunohistochemistry for HNPCC tumors
  • Loss of heterozygosity
  • 7 Oncogenic mutation tests

Tests for Risk Factors

We offer analysis of many risk factors in 30 genes for:

  • Deep Venous Trombosis
  • Alzheimer Disease
  • Heart Disease
  • Osteoporosis
  • Rheumatoid Arthritis
  • Hypertension
  • Crohn Disease
  • HIV

Uniparental Disomy (UPD) Tests
 We offer analysis of uniparental disomy (UPD) for all chromosomes

Pharmacogenetic Tests

We offer pharmacogenetic tests determining:

  • The toxicity of chemo-therapeutics
  • The response to tyrosine kinase inhibitors
  • The activity of phase I and phase II enzymes involved in drug metabolism

Chromosome Analysis and QF-PCR

We offer pre-and postnatal:

  • Chromosome analysis
  • Quantitative fluorescent PCR (QF-PCR)


FISH Analyses

We offer:

  • 27 Microdeletion syndromes
  • Constitutional aneuploidies
  • Deletions, aneuploidies, translocations, amplifications in leukemias and lymphomas
  • Deletions, gains, translocations, amplifications in solid tumors

Customised Diagnostic Tests

We offer:

  • Isolation and storage of DNA
  • Confirmation of mutations found in another lab
  • Genome search
  • Linkage analysis for any gene
  • X- inactivation studies

HLA Typing Tests

We offer low (2 digits) or high (4 digits) resolution typing of HLA types:

  • A, B, C
  • DPA1, DPB1, DQA1, DQB1, DRB1, DRB3, DRB4, and DRB5

Maternal Serum Screening Test for Down Syndrome

We offer:

  • First trimester maternal serum screening for Down syndrome
  • Second trimester maternal serum screening for Down syndrome

Genomic Identity Tests

We offer:

  • Paternity testing
  • Maternity testing
  • Twin zygosity testing
  • Relationship testing