FAQ – Whole Genome Array Tests

What types of products and services does Genatak provide? Genatak products and services are based on genetic biochip microarrays, which can comprehensively screen hundreds of disorders across the whole genome or an individual’s entire DNA in a single test. All our diagnostic array tests are designed by Oxford Gene Technology, UK and us. They are also certified by the International Standards for Cytogenomic Arrays Consortium (ISCA). It is the only array test which uses experimentally optimised probes to ensure highly accurate diagnosis.

Who will need such products and services? The Genatak microarray test should be considered if the following situations are relevant:

  1. Your patient has a child with learning difficulties, delayed development or other noticeable symptoms that you suspect may be a genetic condition.
  2. You suspect a genetic disorder and wish to have an accurate confirmation before your patient plans a family.

What is the technology used? Array-based comparative genomic hybridisation (array CGH) is a technique that allows detection of deletions or amplifications in patient DNA. The array is designed so that it is able to detect minute changes which would be missed by older techniques such as FISH or karyotyping. The other key advantage of the technology is that the entire DNA is tested in one go.

How does it work? Each microarray contains tens of thousands of DNA probes that have been designed across the whole human genome. The probes are not evenly spaced, but are present in higher density in stretches of the DNA that are associated with genetic syndromes. Following mixing of normal DNA with the patient’s DNA it becomes possible to measure the relative abundance of the patient’s DNA at each probe position. This “relative abundance” value is used to quantify the presence of deletions or amplifications in the patient. Computer software is used to link each change to a certain syndrome.

Is the microarray-based cytogenetic platform used in Whole Genome Test considered better than other methods?

  1. The American Society of Human Genetics issued a Consensus Statement (published in the American Journal of Human Genetics, May 14, 2010) recording their support for the use of this platform as the first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
  2. Array Comparative Genomic Hybridization (aCGH) is now renowned as the first line test in leading international laboratories in the US and Europe for children presenting with developmental delay (including mental retardation and autistic spectrum disorders), intellectual disorders & multiple congenital anomalies.
  3. It is the platform of choice adopted by leading international medical institutions.

How is Genatak’ laboratory facilities different from other laboratories in the same industry?

  1. Genatak’s Medical Genetics & Diagnostics Facility is modelled on serving patients first. We do not want to offer you tests only. We strive to offer you pre- and post- counseling services so you can understand what you are being offered and tested for.
  2. The facility that the test is run in is modelled on best practice implemented by leading international medical facilities such as UK NEQAS, CAP and CLIA certification. This ensures that the highest level of efficiency, accuracy, sensitivity and quality control protocols are implemented which are deemed critical for any diagnostic facility to achieve.  

What will array CGH not detect? This technology will not be able to detect balanced translocations, low-level mosaicism or single-nucleotide polymorphisms.

What types of samples do I need to provide? Our preferred sample type is 3ml whole blood in an EDTA tube.

Should I provide consultation to my patients myself or refer them direct to Genatak?

  • Genatak provides you with a range of pre-genetic counseling information pamphlets in line with international medical and diagnostics guidelines set in Europe and the US.
  • This information will normally be sufficient for medical professionals to provide advice to their patients. However, if required, Sengenics can provide access to its panel of in-house and consultant genetic counselors to advise on whether the test is applicable for the patient and the potential outcomes, thereby ensuring peace of mind for you and your patient.

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