INHERITED OPHTHALMOLOGICAL DISEASES
SOSPETTO DIAGNOSTICO METODICA N.GENI
Acromatopsia
MLPA
1
CRB1 gene-related inherited retinal dystrophies (Coats-like)
SANGER/ MLPA
1
Acromatopsia
NGS
6
Glaucoma
NGS
11
Stargardt macular dystrophy/Fundus flavimaculatus
NGS
4
Acromatopsia
NGS
6
Cone dystrophy
NGS
22
Stationary congenital night blindness
NGS
11
Best disease
SANGER
1
Age-related macular dystrophy
SANGER/ NGS/ MLPA
1
Retinitis punctata albescens / Fundus albipunctatus
NGS
4
Central areolar choroidal dystrophy
SANGER/NGS
2
Usher syndrome
NGS
12
Pattern dystrophy
NGS
2
Familial exudative vitreoretinopathy
NGS/ SANGER
4
X-linked retinoschisis
SANGER/MLPA
1
Refsum disease
SANGER
2
Retinitis pigmentosa
NGS
58
Bardet Biedl syndrome
NGS
17
Corneal dystrophy and other correlated Mendelian corneal forms
NGS
19
Ocular albinism type 1
SANGER
1
Enhanced S-cone syndrome
SANGER
1
Primary congenital glaucoma type 3
NGS
2
Macular dystrophy
MLPA
5
Stargardt macular dystrophy
MLPA
1
Retinitis pigmentosa
MLPA
8
Senior-Loken syndrome
NGS
6
Macular dystrophy
NGS
57
Cone dystrophy
MLPA
4
Doyne honeycomb retinal dystrophy (malattia leventinese)
SANGER
1
Choroideremia
NGS/ SANGER/ MLPA
1
Usher syndrome
MLPA
2
Vitelliform macular dystrophy (adult onset)
NGS
4
Sorsby fundus dystrophy
SANGER
1
Age-related macular dystrophy
MLPA
1
Gyrate atrophy of choroid and retina
SANGER
1
Norrie disease
SANGER
1
Leber congenital amaurosis
MLPA
5
Autosomal dominant optic atrophy
NGS/ SANGER
1
Leber congenital amaurosis
NGS
17
Bietti crystalline dystrophy
SANGER
1
CARDIOVASCULAR AND LYMPHATIC DISEASES
SOSPETTO DIAGNOSTICO METODICA N.GENI
Inherited lipodystrophies
NGS
10
Juvenile ischemic stroke (non dissecting)
NGS
9
Juvenile ischemic stroke (non dissecting)
SANGER
2
Familial thoracic aortic aneurysm
NGS
10
Congenital vascular malformations with Mendelian inheritance
NGS
24
Primary lymphedema
NGS
8
Lymphedema - distichiasis
SANGER
1
Emberger syndrome
SANGER
1
Juvenile hemorrhagic stroke
NGS
16
INHERITED DEAFNESS
SOSPETTO DIAGNOSTICO METODICA N.GENI
Jervell and Lange-Nielsen syndrome
NGS
2
Chudley-McCullough syndrome
NGS
1
Non syndromic and aminoglycoside-induced mitochondrial deafness
SANGER
1
Branchio-oto-renal syndrome and branchio-otic syndrome
NGS
3
CHARGE syndrome
NGS
2
Pendred syndrome
NGS
3
Non syndromic genetic deafness
MLPA
5
Non syndromic genetic deafness
NGS
2
Non syndromic genetic deafness
NGS
73
Alport syndrome
NGS
3
Waardenburg syndrome
NGS
6
Treacher Collins syndrome
NGS
3
Stickler syndrome
NGS
5
Perrault syndrome
NGS
4
Mohr-Tranebjaerg syndrome
NGS
1
METABOLIC DISEASES
SOSPETTO DIAGNOSTICO METODICA N.GENI
Mendelian forms of obesity
NGS
18
OTHER PATHOLOGIES
SOSPETTO DIAGNOSTICO METODICA N.GENI
Krabbe disease
NGS
1
Cystic fibrosis
NGS/ MLPA
1
Female infertility
NGS
35
Male infertility
NGS
68