Preimplantation Genetic Diagnosis in Single Gene Disorders

It is very important to diagnose such disorders in the prenatal period (prenatal diagnosis) and even in the embryo stage (preimplantation diagnosis) because of the high frequency of spousal relationships in our country. It is possible making the preimplantation period diagnoses of all single-gene disorders.

Preimplantation genetic diagnosis (PGD) is a procedure used before implantation to help identify genetic defects within embryos. This helps prevent the transmission of certain genetic diseases or disorders to the child. Embryos used in PGD are usually produced during the in vitro fertilization process (IVF).

Preimplantation genetic diagnosis of single-gene disorders is based on the DNA analysis of a single cell. The preimplantation genetic diagnosis is made on such disorders like Cystic fibrosis, Alpha L-1 antitrypsin deficiency, Retinitis pigmentosa, Haemophilia A1 and B, Talassemiler, Alport, Gaucher's, Tay Sach's and Sickle cell anemia, Long-chain acyl-CoA dehydrogenase deficiency, Multiple epiphyseal dysplasia, Achondroplasia, Neurofibromatosis, Epidermolysis bullosa, Myotonic dystrophy, X-linked hydrocephalus, Cancer predisposition, and Fanconi anemia.

Our clinic can provide a service of "Preimplantation Genetic Diagnosis", in which healthy embryos are selected during the in-vitro fertilization practices, for those couples, who have risk in terms of such genetic disorders.

Such diseases include; Familial Mediterranean Anemia (Talassemi major), HLA tissue suitability tests, Sickle Cell Anemia, Spinal Muscular Atrophy (SMA), Congenital Deafness, etc.

Many of those families, who had a genetically diseased child and a high risk of abnormal pregnancy, and want to have healthy children with the genetic diagnosis sending embryos at our center.

Many couples reached a happy ending with our In Vitro Fertilization and PGD treatments, which were specifically suited to the patient.

NOTE: PGT can be applied to all of those disorders, whose genetic diagnoses were made, at our center.

·ACHROMATOPSIA

·ADRENOLEUKODYSTROPHY

·APERT SYNDROME

. ATAXIA TELANGIECTASIA

·BARDET BIEDL SYNDROME

· BEST DISEASE BEST1 (VMD2) SEQUENCING

· BETA GALACTOSIDASE DEFICIENCY

· BETA THALASSEMIA

. BIOTIDINAZ DEFICIENCY

. BRCA1/2

. BRUTTON DISEASE

. CANAVAN DISEASE

. CHARCOT MARIE TOOTH

. CHRONIC GRANULOMATOSIS

. CITRULINEMIA

. COMBINED IMMUNO DEFICIENCY

. CONGENITAL DEAFNESS

. CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1F (MPDU1/MGTA2) GENE

. CONGENITAL HYPOVENTILATION SYNDROME (PHOX2B)

. CUTIS LAXA

. CYSTIC FIBROSIS

. CYSTINOSIS

. DONOHUE SYNDROME

. DRAVET SYNDROME

. DUCHENE MUSCULAR DYSTROPHY (DMD)

. EBV-ASSOCIATED AUTOSOMAL LYMPHOPROLIFERATIVE SYNDROME (ITK)

. EPIDERMOLYSIS BULLOSA DYSTROPHIC TYPE

. EPIDERMOLYSIS BULLOSA JUNCTIONAL TYPE

. FABRY DISEASE

. FAMILIAL ISOLATED GH DEFICIENCY

. FAMILIAL MEDITERRANEAN FEVER (FMF)

. FANCONI BICKEL SYNDROME

. FOCAL DERMAL HYPOPLASIA

. FRAGILE X SYNDROME

. FRUCTOSE INTOLERANCE

. GALACTOSEMIA

. GANGLIOSIDOSIS

. GAUCHER DISEASE

. GLYCOGENSTORAGE DISEASE

. GLUCOSE 6 PHOSPHATE DEHYDROGENASE / BILIARY ATRESIA

. GLUTARIC ACIDEMIA TYPE 2

. HAEMOPHILIA

. HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

. HEREDITARY SPHEROCYTOSIS

. HUNTINGTON (ETHICAL APPROVAL IS NECESSARY)

. HYPER IgE (DOCK-8)

. HYPER IgM SYNDROME

. HYPERTROPHIC CARDIOMYOPATHY

. HYPOPHOSPHATEMIC RICKETS

. ICHTHYOSIS BULLOSA

. ICHTHYOSIS VULGARIS

. INFANTIL NEUROAXONAL DYSTROPHY

. JANUSKINASE (JAK2)

. JOUBERT SYNDROME

. CONGENITAL NEUTROPENIA

. KOSTMANN SYNDROME

. KRABBE

. MAPLE SYRUP URINE DISEASE

. MECKEL-GRUBER SYNDROME

. MENKES SYNDROME

. MEROSIN DEFICIENT CONGENITAL MUSCULAR DISTROPHY

. METHYL MALONIK ASIDEMILI

. MHC DEFICIENCY

. MUCOPOLYSACCHARIDOSIS TYPE 1

. MULIBREY NANISM

. MULTIPLE SYNOSTOSIS SYNDROME

. MYOTONIA CONGENITA

. MYOTONIC DYSTROPHY

. NEUROFIBROMATOSIS

. NIEMANN-PICK TYPE A/B

. NIJMEGEN SYNDROME

. NON-KETOTIK HIPERGLISINEMI

. NEUROFIBROMATOSIS TYPE 1

. OMENN SYNDROME

. OSTEOGENESIS IMPERFECTA

. PELIZAEUS MERZBACHER

. PHENYLKETONURIA

. POLICYTICKIDNEY DISEASE (AUTOSOMAL DOMINANT PKD1)

. POLICYTICKIDNEY DISEASE (RECESSIVE FORMPKHD1)

. POMPE DISEASE

. RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT AND RECESSIVE FORM)

. RETT SYNDROME

. RH DEFICIENCY

. ROBERT SYNDROME

. SCID SYNDROME

. SCWACHMAN DIAMOND SYNDROME

. SECKEL SYNDROME

. SPINAL MUSCULAR ATROPHY (SMA)

. TAY -SACH'S DISEASE

. TUBEROUS SKLEROSIS

. TYROSINEMIATYPE 1

. VANISHING WHITE MATTER

. WILSON DISEASE

. WISKOTT ALDRICH SYNDROME

. ZELLWEGER SYNDROME