Transforming Globalm Genetic Data into Medical Decisions

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A drop of blood can change your patient’s life. Support your patients fully with accurate information and helpful advice. A definitive diagnosis can bring great relief to patients and families, especially when they have been searching for answers a long time.

We test for the following disease categories:

Metabolism

Neurology

Ophthalmology

Oncogenetics

Reproductive

Malformation

Bone, skin & immune

Cardiology

Ear, nose & throat

Nephrology

Hematology

Vascular

For more information, schedule a genetic counseling session office@amsgeneticlab.ro

Whole Genome Sequencing – WGS

Whole genome sequencing is ideal for finding new mutations and identifying atypical manifestations of a disease, especially for patients with a heterogeneous or atypical phenotype.

Advantages:

CentoGenome® offers you a state-of-the-art genomic analysis, with the most comprehensive analysis report, at a competitive price. Whole genome sequencing (WGS) is the superior way to diagnose complex or genetically undiagnosed diseases with the highest level of certainty.

Whole Exome Sequencing – WES

The entire exome sequence provides information on all genes and identifies DNA changes by focusing on the most informative regions of the genome for a fast and cost-effective diagnostic solution.

Advantages:

  • Most of the mutations identified so far (about 85%), which cause diseases, are located in the exon. While most genetic tests focus on a single gene or subset of predetermined genes, exome sequencing examines thousands of genes simultaneously (about 20,000).
  • CentoXome® from CENTOGENE offers a fast and cost-effective solution, which involves sequencing all exons in the genome.

The new Exom (WES) is stronger than ever!

  • The new EXOM provides improved information on all protein-coding regions (the exome), the complete mitochondrial genome, and medically significant genes and variants.
  • Excellent and uniform coverage throughout the exome (approximately 20,000 genes)
  • Improving clinically relevant regions by providing quality group coverage of approximately 8,000 medically relevant genes
  • Coverage of disease-causing variants of HGMD®, ClinVar and CentoMD® in non-coding regions
  • Access to almost the entire spectrum of genetic variants
  • SNVs and InDels
  • CNVs and other SVs
  • UPD
  • mtDNA variant

The result: an analysis with the newly improved WES is more comprehensive than conventional WES testing and offers a faster diagnosis.

Individualize Your Patient’s Therapy – Biomarker & Biochemical Testing

Biomarkers play an essential role in diagnosing, predicting and monitoring the therapy of several metabolic diseases, especially when patients have accessible treatment options.

Easy administration, continuous monitoring and responsible care.

Biomarker technology has increased use in disease diagnosis, drug development and treatment effectiveness.

Advantages:

  • Easy to be analyzed using DBS (dried blood spots) technology
  • Linked to clinical manifestation
  • Quantify easily and reliably in clinical samples
  • Reflect realistically the burden of the disease
  • Elucidate the molecular pathogenesis of the disease
  • Reflect the therapeutic measure outcomes
NGS Panel – the smart solution for testing a gene pool

Diagnostic accuracy by sequencing the entire genome at the price of a NGS panel!

Eliminates additional costs on step wise analysis like Del/Dup, follow up WES/WGS, or analysis of new genes associated with the phenotype when new information surfaces.

Advantages:

  • Validated by highly experienced medical experts
  • Detailed evaluation of clinical data
  • Turnaround time <25 business days
Comparative genomic hybridization by CGH-HD array

Comparative genomic hybridization is a molecular cytogenetic method for the analysis of variations in the number of copies (CNV). The CGH array allows the fast and efficient determination of the DNA sequences in the analyzed sample.

Benefits:

  • High resolution in the identification of chromosomal aberrations in the genome
  • Short time to receive results (15 working days)
  • Highest performance with a wide range of sample types, including paraffin-fixed samples (FFPE)
  • Considering the price, it is a cost-effective alternative to MLPA and qPCR, when several genes are analyzed simultaneously