Üreme Genetiği Servislerimiz - PowerPoint Presentation

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Üreme Genetiği Servislerimiz

PGS 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

24 Sure

Array

CGH (

Illumina

)

NGS 24 KROMOZOM

Blastomer

ve

trofektoderm

hücrelerinde değerlendirme güvenirliliği

BLASTOMERTROFEKTODERM

Array

CGH

NGS

Hem translokasyonları

hem de 24 kromozom tarayarak

anöploidileri

eş zamanlı tarayabilme imkanı

Veriseq

NGS –PGS iş akışı ve test süresi

NGS 24 KROMOZOM

TEK 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

Tek Gen HLA Raporumuz

En karmaşık aile öyküleri ve geniş akraba evliliklerinin olduğu ailelerde dahi

sonuca ulaşabilmenin en güncel yolu.sonuca ulaşabilmenin en güncel yolu.

CİHAZ PARKI