Embryo HLA Typing
FISH can be used to analyse up to 9 chromosomes to investigate reasons for recurring IVF failures. The embryo can be tested to determine whether it is euploid and balanced, and thus have a higher chance of implanting. One can also use PCR or a-CGH to analyse 23 chromosomes, two techniques which are similar to FISH but take up to 2 days due to the increased amount o material studied. Single gene disorders: If there is a known disease in the family, a genetic test should be developed to determine the gene with the mutation. For this reason, a genetic analysis should be done on each individual in the family. Some of the more frequently seen single gene disorders are listed below:
Beta Thalassemia | Spinal Muscular Atrophy | Cystic Fibrosis |
Sickle Cell Anemia | Myotonic Distrophy | San Filippo Syndrome |
Fragile X Syndrome | Charcot-Marie Tooth | Familial Mediterannean Fever (FMF) |
Li Fraumeni Syndrome | Mucopolysaccharidosis | Neurofibromatosis |
Delta-Beta Thalassemia | Bartter Syndrome | Congenital Deafness (connexin 26) |
G6PD (Glycose-6 Phosphate Dehydrogenase enzyme deficiency) | Huntington Disease | PKU (phenylketonuria) |
Hyper-IgM Syndrome | Pompe Disease | CAH (Congenital Adrenal Hyperplasia) |
FHHNC (Familial Hypomagnesemia, Hyper calciuria ve Nephrocalcinosis) | FSHD (Fasiyo Skapulo Humeral Müsküler Distrofi) | INAD (Infantile Neuroaksonal Dystrophy) |
Krabbe Disease | LMD (Limb Girdle Muscular Dystrophy) | Neiman Pick |
Osteogenesiz İmperfekta | Retinoblastoma | Spastic Paraplegia |
Tay Sach’s Disease | Tuberosclerosis | Galactosemia |
Factor VII deficiency | BRCA1 | Hunter Syndrome |
Metachromatic Leukodystrophy | Hereditary Multiple Exostosis | Propionic Acidemia |
HLA Compatibility Test: HLA (Human Leukocyte Antigen) is a system composed from many genes on Chromosome number 6 and determines the cells that immune system recognizes as its own. The test is to determine the compatibility of organ or bone marrow with the recipient. If there is HLA compatibility, the chances that the body will reject the tissue and cells. HLA gene analysis can be done on a blastomere from an embryo.