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PGD ONE™
PGDA NGS for monogenic diseases
What is PGD ONE™?
PGD ONE™ is a test that detects the genetic defects (mutations) inherited by a child from their parents. DNA material from embryos is analysed prior to transfer to the uterus, that is, before the woman actually becomes pregnant.
The test can be carried out on material collected by biopsy in the 3rd (blastomere) or 5th/6th (trophectoderm cells) day of the embryo culture. Because of the risk of misdiagnosis caused by the pollution of sperm when using standard in vitro fertilization, the ICSI procedure is recommended. Any diagnosis of PGD ONE™ is treated individually and preceded by an examination of the material from the prospective parents. Under the procedure, a frozen embryos transfer (FET) is required.
Experience matters
PGD ONE™ is a preimplantation genetic diagnosis for monogenic diseases.
Why is it worth to perform PGD ONE™?
- Possibility of diagnosing any known genetic-based monogenic disease at the
embryo stage, and reducing the risk of its occurrence in your child
- Possibility of conducting a PGDA NGS 360°™ (Preimplantation Genetic
Screening) from a single sample (single biopsy) at the same time – reducing
the risk of monogenic diseases and genetic defects resulting from an abnormal
number of chromosomes
The world’s first use of NGS (Next
Generation Sequencing) in the
PGD ONE™ preimplantation
diagnosis for monogenic diseases.
INVICTA Genetic Laboratory: February 2015
Table 1. Twenty of the most routinely sought point mutations in a PGD ONE™ preimplantation diagnosis at the INVICTA Genetic Laboratory.
| Genetic disorder | Gene/Locus |
|---|---|
| Cystic fibrosis (CF), Mucoviscidosis | CFTR |
| Smith-Lemi-Opitz syndrome (SLOS) | DHCR7 |
| Muscular dystrophy (DMD) | DMD |
| Deafness, autosomal recessive 1A (DFNB1A) | GJB2 |
| Huntington disease (HD) | HD |
| Autosomal Dominant Polycystic Kidney Disease (ADPKD1) | PKD |
| Spinal muscular atrophy | SMN1 |
| Adenylosuccinase Deficiency | ADSL |
| Familial adenomatous polyposis 1 (FAP1) | APC |
| Argininosuccinic aciduria | ASL |
| Osteogenesis imperfecta, type IV (OI Type IV) | COL1A1 |
| Genetic disorder | Gene/Locus |
|---|---|
| Haemophilia A | F8 |
| Facioscapulohumeral muscular dystrophy 1 (FSHD1) | FSHD |
| Epidermolysis bullosa simplex (EBS) | KRT14 |
| Congenital disorder of glycosylation, type 1a (CDG1A) | PMM2 |
| Pituitary hormone deficiency, combined, 2 (CPHD2) | PROP1 |
| Cardioencephalomyopathy | SCO2 |
| Loeys-Dietz syndrome | TGFBR |
| Tuberous sclerosis 1 (TSC1) | TSC1 |
| Wiskott-Aldrichsyndrome (WAS) | WAS |
What are the indications for PGD ONE™?
- People with a genetic test result confirming a clinical diagnosis of monogenic disease
- People with a genetic test result confirming the presence of mutation carriers
- The presence of inherited genetic diseases or a history of specific mutation in the family
INVICTA Genetic Laboratory offers:
- Free PGD BIOPSY KIT™
- Free shipment
- Online access to results
Limitations
PGD ONE™ is individually designed preimplantation genetic diagnosis for particular patients in order to exclude transmission to descendant a genetic feature proven to be a cause of disease by test results from genetic diagnostics laboratory. Performing PGD ONE™ does not exclude risk of genetic disease, which may be resulted from other factors, e.g. de novo mutations, undiagnosed mutations, or other genetic diseases.
Literature
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