SOSPETTO DIAGNOSTICO | METODICA | N.GENI |
---|---|---|
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 |
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 |
SOSPETTO DIAGNOSTICO | METODICA | N.GENI |
---|---|---|
Lymphedema - distichiasis |
SANGER |
1 |
Emberger syndrome |
SANGER |
1 |
Juvenile hemorrhagic stroke |
NGS |
16 |
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 |
SOSPETTO DIAGNOSTICO | METODICA | N.GENI |
---|---|---|
Stickler syndrome |
NGS |
5 |
Perrault syndrome |
NGS |
4 |
Mohr-Tranebjaerg syndrome |
NGS |
1 |
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 |
SOSPETTO DIAGNOSTICO | METODICA | N.GENI |
---|---|---|
Cystic fibrosis |
NGS/ MLPA |
1 |
Female infertility |
NGS |
35 |
Male infertility |
NGS |
68 |
Krabbe disease |
NGS |
1 |
SOSPETTO DIAGNOSTICO | METODICA | N.GENI |
---|---|---|
Mendelian forms of obesity |
NGS |
18 |