Complete 24 Chromosome Analysis
Comprehensive aneuploidy screening is available to offer to patients pursuing preimplantation genetic screening (PGS). Array CGH (aCGH) allows Reprogenetics to screen all chromosomes in 24-36 hours of sample receipt.
aCGH is an advanced genetic test that must be used in conjunction with in vitro fertilization (IVF) as removal of a cell(s) from an oocyte or embryo is required to perform the analysis. Once the cells are removed they are individually identified, loaded into tubes and sent to Reprogenetics for testing.
The microarray is a treated glass slide with the ability to individually screen multiple samples in a 24-36 hour period. Each samples is unique and the result of one sample is not dependent on the cohort.
Once the samples are received by Reprogenetics the DNA contained in the tubes is amplified and hybridized on a slide with fluorescently labeled control DNA. The resulting fluorescent ratios provide clear clinical diagnosis of copy number aberrations. This diagnosis may contribute to the success of the IVF procedure.
This new technology will enable Reprogenetics to improve screening for genetic defects and improve pregnancy outcome for all patients going through IVF by reducing spontaneous abortions and genetically affected conceptions. In the future we anticipate the ability to combine this technology with detection of other microdeletion syndromes. aCGH enables Reprogenetics to perform high throughput aneuploidy screening from a single cell.
Aneuploidy Screening
Prior to the availability of complete 24-chromosome screening, Fluorescent InSitu Hybridization (FISH) was considered the Gold Standard for aneuploidy screening.
Reprogenetics presently offers four tests using FISH:
- 3 probe panel – X Y 21
- 5 probe panel – X Y 13 18 21
- 9 probe panel – X Y 13 15 16 17 18 21 22
- 12 probe panel – X Y 8 13 14 15 16 17 18 20 21 22
These tests are based on the frequency of trisomies arriving to term (XY, 13,18,21), those that are common in spontaneous pregnancy losses (16,22,15,21) and those that are most commonly found in day 3 embryos (22,16,21,15,17).
In cases where results are ambiguous, Reprogenetics uses a technique called No Result Rescue (NRR) where telomeric probes are used to bind to a different locus and reanalyze the cells. This method allows for the discrimination between probe overlaps or split signals, and considerably reduces the error rate. Turnaround time for diagnosis is six to twelve hours from the time of sample arrival, depending on whether a third round with telomeric probes is needed. Reprogenetics can also accommodate requests for additional analysis of other chromosomes not covered in the standard test.
Translocation Testing
Reprogenetics’ scientists are responsible for the development of many of the current approaches to preimplantation diagnosis of translocations. Our team has the most extensive experience in the field with over 1000 cycles performed to date. Custom-made probes, involving three or more probes, are used to diagnose translocations and other chromosomal rearrangements. Diagnosis of translocations can be combined with aneuploidy screening, but the obtaining a result for the translocation is the priority. While FISH is still routinely used to diagnosis translocations, Reprogenetics scientific team is utilizing array technology to perform many translocation tests.
Single Gene Disorders and HLA
Reprogenetics offers PGD for any genetic disease with an identified mutation. Preparation for the test is necessary prior to starting a PGD cycle. In certain cases, it may be necessary to test blood and buccal cells from other family members. All tests must be scheduled in advance and coordinated through the Reprogenetics’ Clinical Genetics Services team.
Reprogenetics is approved by the NYSDOH to offer HLA matching. In HLA matching, embryos are screened for HLA-types compatible to those of an ill child from the patient couple. In cases such as lymphoma, where the child needing stem cell transplantation has an illness that is not caused by the inheritance of a defective gene, HLA-typing is the only testing necessary. However, if the illness is caused by a mutation passed from one generation to the next (parent to child), then an additional test can be performed. The only embryos transferred to the mother’s uterus will be those that are HLA compatible and free of the disease-causing mutation(s). Such embryos are expected to produce healthy stem cells with the correct tissue type for transplantation to their brother or sister.
Reprogenetics has a staff of genetic counselors with specific expertise in PGD to serve the needs of its clients. Although Reprogenetics assumes no obligation to advise you as to your legal requirements as to the provision of PGD test, PGD counseling is recommended for every patient undergoing PGD. For patient convenience, the consultations are conducted by telephone and include a discussion about how the test will be performed, what it will indicate and a review of the applicable Reprogenetics data. A letter will be sent to document such consultations. This service can be customized when necessary.
Biopsy services content.
Sperm testing content.
Products of conception content.
Unlike other Preimplantation Genetic Diagnosis companies, Reprogenetics does not simply copy documented procedures and apply them to IVF Patients. Reprogenetics continues to innovate in order to provide better services for our patients. Towards this end, Reprogenetics maintains a strong focus on Research and Development. We are constantly monitoring our success rates and determining the best methods for increasing our outcomes. Moreover, we are consistently ahead of the curve with embracing and utilizing the newest technologies to improve screening for aneuploidies, translocations and single-gene disorders.