Preimplantation genetic screening PGS can benefit any couple at risk from passing on
genetic\chromosomal abnormalities.

Promoting excellence and professionalism in the delivery of laboratory services through patient – focused,
cost – effective diagnostic services.

The GenaTi team of researchers and scientists continues to work tremendously hard in order to set up new research
priorities and strategic directions for the GenaTi that are crucial to strengthening Saudi Arabia's health care system.

GenaTi contributes to the prevention of genetic diseases in the Kingdom of Saudi Arabia by offering
pre-implantation genetic diagnosis and screening in its new IVF clinic

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  5. Genotyping & Copy Number Analysis Research Services

Genotyping & Copy Number Analysis Research Services

Overview:

Genotyping is the process of determining the genetic constitution – the genotype – of an individual by examining their DNA sequence. Genotyping at GenaTi Genotyping and Copy Number Analysis Research Services (GGCNARS) can be performed using several techniques and platforms.
Single nucleotide polymorphisms, frequently called SNPs, are the most common type of genomic variation among people. Each SNP represents a difference in a single DNA building block, called a nucleotide. SNPs occur normally throughout a person’s DNA. They occur once in every 300 nucleotides on average, which means there are roughly 10 million SNPs in the human genome. Most commonly, these variations are found in the DNA between genes. They can act as biological markers, helping scientists to locate genes that are associated with disease(s). When SNPs occur within a gene or in a regulatory region near a gene, they may play a more direct role in disease by affecting the gene’s function. Most SNPs have no effect on health or development. Some of these genetic differences, however, have proven to be very important in the study of human health.
Copy Number Variations (CNVs) are also structural alterations in the genome that results in an abnormal number of copies of one or more sections of the DNA. CNVs correspond to relatively large regions of the genome that have been deleted or duplicated. They could be linked to either biological diversity or pathogenic.
The GenaTi GGCNARS offers a comprehensive genotyping and copy number variation analysis services, which will be performed using conventional target gene techniques or high-throughput platforms from Agilent, Affymetrix, Illumina and Applied Biosystems. Services range from whole exome scans to focused panels to individual SNP genotyping, using a variety of genotyping and copy number analysis platforms.

Offered Services:

  Sanger DNA sequencing: It is the gold-standard sequencing technique and the ultimate tool for confirming any genetic variation using a selective incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro DNA replication.

  Polymerase Chain Reaction (PCR) technique: (Allele specific PCR)

  PCR followed by Restriction Enzyme Analysis: Restriction Fragment Length Polymorphism (RFLP) for detection of mutation (s) in specific genes.

  In situ Hybridization (ISH): including Fluorescence In Situ Hybridization (FISH) and Bright Field Dual In Situ Hybridization (BDISH). Further details about the GenaTi ISH-applications are available on the GenaTi molecular cytogenetics diagnostic service.

  Real time PCR: Real-time PCR is a fast, easy, and affordable technique for studying gene expression analysis and SNP genotyping. Results from microarrays and RNA sequencing are often validated using real-time PCR with TaqMan® Assays. SYBR Green-based real-time PCR services are also available.

  Digital real time PCR: Digital PCR is a breakthrough technology that provides ultrasensitive and absolute nucleic acid quantification. This ultra-sensitive platform for nucleic acid detection provides sensitive, specific detection of single template molecules and therefore useful in several molecular biology applications including CNV, gene expression and rare allele/gene targets detection.

  Microarray techniques: Genome-wide genotyping and SNP analysis could be carried out at once using array comparative genomic hybridization combined with SNP arrays (array–CGH/ SNP) using either Affymetrix or Agilent platforms:

 
 Affymetrix: Cytoscan HD array
 Agilent: The following types of arrays for both aCGH and SNP analysis are offered with either Enzymatic or ULS labelling:
  SurePrint G3 Human CGH+SNP Microarray 1x1M
  SurePrint G3 Human CGH+SNP Microarray 2x400K
  SurePrint G3 Human CGH+SNP Microarray 4x180K
  SurePrint G3 Human CGH+SNP Microarray 8x60K
 

  Whole Exome SNP Analysis

Available platforms (Offered services):
Note: Each of the following services can be offered with or without data analysis

 
  Sanger DNA sequencing
  Polymerase Chain Reaction (PCR) technique: (Allele specific PCR)
  PCR followed by Restriction Enzyme Analysis; as Restriction Fragment Length Polymorphism (RFLP).
  In situ Hybridization (ISH): FISH or BDISH
  TaqMan-based Real time PCR
  Digital real time PCR
  Microarray technique: Array –CGH/ SNP array
  Whole Exome SNP Analysis
  Full Service includes DNA extraction, Genotyping and/or CNV experiment optimization, processing of samples, and data analysis.