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פאנלים

GC_43

Albinism and congenital nystagmus

GC_21

Alport

GC_38

Anophthalmia microphthalmia coloboma

GC_32

Arrhythmia and Cardiomyopathy Comprehensive Panel

GC_6

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

GC_47

Arthrogryposis

GC_57

Autoinflammatory disorders

GC_61

Brain malformation

GC_19

Bronchiectasis

GC_14

CAKUT

GC_26

Cardiac arrhythmia

GC_65

Cataract

GC_64

Cerebral small vessel

GC_13

Comprehensive Cardiomyopathy

GC_2

Comprehensive hearing loss

GC_71

Comprehensive myopathies

GC_20

Congenital heart defect

GC_67

Congenital hypothyroidism

GC_63

Congenital myaesthenic syndrome

GC_44

Congenital myopathy

GC_81

Congenital stationary night blindness

GC_77

Conginital adrenal hyperplasia

GC_12

Connective tissue disease

GC_58

Corneal dystrophy

GC_34

Cornelia de Lange syndrome

GC_15

Craniosynostosis

GC_3

Dilated Cardiomyopathy

GC_72

Disorders of sex development

GC_68

Dystonia

GC_17

Ectodermal dysplasia

GC_66

Ectopia lentis

GC_46

Epidermolysis bullosa and peeling skin syndrome

GC_23

Epilepsy

GC_75

Exocytosis

GC_31

Familial hyperlipidemia

GC_85

Glaucoma

GC_9

Glycogen Storage Disease

GC_52

Hereditary ataxia

GC_28

Hereditary cancer

GC_56

Hereditary haemorrhagic telangiectasia

GC_53

Hereditary neuropathy

GC_42

Hidradenitis Suppurativa

GC_76

Hyperammonaemia

GC_5

Hypertrophic cardiomyopathy

GC_35

Hypoglycemia and hyperinsulinisim

GC_36

Hypogonadotropic and hypogonadism

GC_50

Hypoparathyroidism

GC_48

Ichthyosis and erythrokeratoderma

GC_54

Idiopatic epilepsy

GC_25

Immune disorders

GC_41

Inborn errors of metabolism

GC_79

Inherited bleeding disorders

GC_87

Kabuki syndrome

GC_84

Leukodystrophy

GC_18

Liver disease

GC_27

Long QT syndrome

GC_10

Lysosomal storage disorder

GC_86

Microcephaly

GC_73

Mitochondrial disorder

GC_1

Monogenic diabetes

GC_88

Multisystem ciliopathy

GC_29

Muscular dystrophy and limb girdle

GC_60

Myopia

GC_55

Nephrolithiasis or nephrocalcinosis

GC_83

Neuro-Ophthalmology

GC_69

Neuromuscular Disorders

GC_39

Non-syndromic hearing loss_sources

GC_7

Obesity

GC_51

Optic atrophy and optic neuropathy

GC_22

Osteogenesis imperfecta

GC_11

Overgrowth and Macrocephaly Syndrome

GC_78

Pancreatitis

GC_82

Parkinson disease

GC_74

Pediatric hereditary cancer

GC_80

Periodic fever syndrome

GC_24

Primary ciliary dyskinesia

GC_33

Primary ovarian insufficiency

GC_70

Pulmonary hypertension

GC_16

RASopathy

GC_45

Renal disesase

GC_40

Retinal disorders

GC_59

Short stature

GC_8

Skeletal dysplasia and disorder

GC_30

Spastic paraplegia

GC_37

Vascular malformations

GC_89

Wilms Tumor

GC_49

hyperparathyroidism hypocalciuric hypercalcaemia

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