GENETIC DISEASE IN PEDIATRICS

Mahezarani Ning Anindyta

NPM 1706119094

Single gene disorder Genetic tests

Cystic fibrosis DNA analysis
Sickle cell anemia Microarray analysis (aCGH)
Mithocondrial disease Non-invasive prenatal testing (NIPT) based
on cell-free fetal DNA (cffDNA)
Prader-Willi Immunohistochemistry
Angelman syndrome Sequence analysis
Marfan syndrome
Duchenne muscular dystrophy (DMD)
Neurofibromatosis type 1
Osteochondrodysplasia
Thalassemia
Hemophillia
Phenylketonuria (PKU)
Fragile X
Huntington disease
Polycystic kidney disease
Hemochromatosis
Galactosemia
Tay-Sachs

Chromosomal
Down syndrome DNA analysis
Turner syndrome Microarray analysis (aCGH)
Klinefelter syndrome Chromosomal analysis
Edwards syndrome Karyotype analysis (FISH)
DiGeorge syndrome
Patau syndrome
Cri du chat syndrome
Wolf-Hirschhorn syndrome
Jacobsen syndrome
Pallister Killian syndrome
Ring chromosomal 14 syndrome
Triple X syndrome
XYY syndrome

Multifactorial
Obesity DNA analysis
Hypertension RNA analysis
DM type 1&2 Uniparenteral disomy study
Short stature Immunohistochemistry
Childhood cancers
Diaphragmatic hernia
Cleft Palate
Autism
Seizure
Hearing loss
Extreme farsightedness
Glaucoma
Hyperkolesterolemia