PGS TEKNOLOJİLERİ FISH ANALİZİ NGS ARRAYCGH 812 Kromozom tarar Öploid embriyo seçiminde sınırlıdır 24 kromozom tarar IVF başarısını arttırır Son teknoloji Güvenirliliği yüksek ID: 930839
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Slide1
Üreme Genetiği Servislerimiz
Slide2PGS TEKNOLOJİLERİ
FISH ANALİZİ
NGS
ARRAY-CGH
8-12 Kromozom tarar
Öploid
embriyo seçiminde sınırlıdır
24 kromozom tarar
IVF başarısını arttırır
Son teknoloji
Güvenirliliği yüksek
Hassasiyeti yüksek
Slide324 Sure
Array
CGH (
Illumina
)
Slide4Slide5NGS 24 KROMOZOM
Slide6Blastomer
ve
trofektoderm
hücrelerinde değerlendirme güvenirliliği
BLASTOMERTROFEKTODERM
Array
CGH
NGS
Slide7Hem translokasyonları
hem de 24 kromozom tarayarak
anöploidileri
eş zamanlı tarayabilme imkanı
Slide8Veriseq
NGS –PGS iş akışı ve test süresi
Slide9NGS 24 KROMOZOM
Slide10Slide11TEK GEN HASTALIKLARI
PANELİMİZDEKİ TEK GEN HASTALIKLARI
ACHROMATOPSIA
DUCHENE MUSCULAR DYSTROPHY (DMD)
HYPOPHOSPHATEMIC RICKETS
NON-KETOTIK HIPERGLISINEMI
ADRENOLEUKODYSTROPHY
DYSKERATOSIS CONGENITA
ICHTHYOSIS BULLOSA
NEUTROPENIA
ACHONDROPLASIA
EBV- SYNDROME (ITK)
ICHTHYOSIS HARLEQUIN
NEUROFIBROMATOSIS TYPE 1
ALFA THALASEMIA
ECTODERMAL DYSPLASIA
ICHTHYOSIS VULGARIS
OMENN SYNDROME
APERT SYNDROME
EPIDERMOLYSIS BULLOSA DYSTROPHIC TYPE
INFANTIL NEUROAXONAL DYSTROPHY
OSTEOPOROSIS PSEUDOGLIMA SYNDROME
ATAXIA TELANGIECTASIA
EPIDERMOLYSIS BULLOSA JUNCTIONAL TYPE
JANUSKINASE (JAK2)
OSTEOGENESIS IMPERFECTA
BARDET BIEDL SENDORUMU
EXOCYTOSIS MULTIPLE TYPE 1
JOUBERT SYNDROME
PELIZAEUS MERZBACHER
BEST DISEASE BEST1 (VMD2) SEQUENCING
FABRY DISEASE
CONGENITAL NEUTROPENIA
PHENYLKETONURIA
BETA GALACTOSIDASE DEFICIENCY
FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
KAUFMANN SYNDROME
POLICYTIC KIDNEY DISEASE (AD PKD1)
BETA THALASSEMIA
FAMILIAL ISOLATED GH DEFICIENCY
KOSTMANN SYNDROME
POLICYTIC KIDNEY DISEASE (AR PKHD1)
BIOTIDINAZ DEFICIENCY
FAMILIAL MEDITERENIAN FEVER (FMF)
KRABBE DISEASE
POMPE DISEASE
BRCA1/2
FANCONI BICKEL SYNDROME
LEIGH SYNDROME ( SURF1)
PSEUDO TORCH SYNDROME
BRUTTON DISEASE
FOCAL DERMAL HYPOPLASIA
LEIGH SYNDROME
RENAL TUBULER DYSGENESIS
CARNITINE ACYLCARNITINE
TRANSLOCASE
FRAGILE X SYNDROME
LARON DWARFISM
RETINISKISIS
CANAVAN DISEASE
FRUCTOSE INTOLERANCE
MAPLE SYRUP URINE DISEASE
RETINITIS PIGMENTOSA (AD , AR )
CEREBROFASCIOTHORACIC DYSPLASIA
GALACTOSIALIDOSIS
MECKEL-GRUBER SYNDROME
RETT SYNDROME
CHARCOT MARIE TOOTH TYPE 1A
GALACTOSEMIA
MENKES SYNDROME
RH DEFICIENCY
CHARCOT MARIE TOOTH TYPE 2A
GANGLIOSIDOSIS
MEROSIN DEFICIENT MUSCULAR DISTROPHY
ROBERT SYNDROME
CHRONIC GRANULOMATOSIS
GAUCHER DISEASE
METHYL MALONIC ACIDEMIA
SCID SYNDROME
CITRULINEMIA
GLYCOGEN STORAGE DISEASE
MHC DEFICIENCY
SCWACHMAN DIAMOND SYNDROME
CONE ROD DYSTROPHY
G6PD/ BILIARY ATRESIA
MUCOPOLYSACCHARIDOSIS TYPE 1
SECKEL SYNDROME
COMBINED IMMUNODEFICIENCY
GLUTARIC ACIDEMIA TYPE 2
MULIBREY NANISM
SPINAL MUSCULAR ATROPHY (SMA)
CONGENITAL DEAFNESS
HAEMOPHILIA A
MULTIPLE SYNOSTOSIS SYNDROME
SCA TYPE 20
CONGENITAL DISORDER OF GLYCOSYLATION 2A
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
MYOTONIA CONGENITA
SURFACTANT DEFICIENCY
CONGENITAL DISORDER OF GLYCOSYLATION 1
HEREDITARY SPHEROCYTOSIS
MYOTONIC DYSTROPHY
TAY -SACH'S DISEASE
CONGENITAL HYPOVENTILATION SYNDROME
HOMOCYSTINURIA
NEPHROTIC SYNDROME
TUBEROUS SKLEROSIS
CUTIS LAXA
HUNTINGTON (ETHICAL APPROVAL IS NECESSARY)
NEPHRONOPTHISIS
TYROSINEMIA TYPE 1
CYSTIC FIBROSIS
HYPER IgE (DOCK-8)
NEUROFIBROMATOSIS
VLCAD SYNDROME
CYSTINOSIS
HYPER IgM SYNDROME
NIEMANN-PICK TYPE A/B
VANISHING WHITE MATTER
DONOHUE SYNDROME
HYPERPHENYLALANINEMIA
NIJMEGEN SYNDROME
WILSON DISEASE
DRAVET SYNDROME
HYPERTROPHIC CARDIOMYOPATHY
NOONAN SYNDROME
WISKOTT ALDRICH SYNDROME
ZELLWEGER SYNDROME
Slide13Tek Gen HLA Raporumuz
Slide14Slide15Slide16En karmaşık aile öyküleri ve geniş akraba evliliklerinin olduğu ailelerde dahi
sonuca ulaşabilmenin en güncel yolu.sonuca ulaşabilmenin en güncel yolu.
Slide17Slide18CİHAZ PARKI
Slide19