| SOSPETTO DIAGNOSTICO | METODICA | N.GENI |
|---|---|---|
|
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 |
|
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 |
| SOSPETTO DIAGNOSTICO | METODICA | N.GENI |
|---|---|---|
|
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 lipodystrophies |
NGS |
10 |
|
Juvenile ischemic stroke (non dissecting) |
NGS |
9 |
|
Juvenile ischemic stroke (non dissecting) |
SANGER |
2 |
|
Familial thoracic aortic aneurysm |
NGS |
10 |
| SOSPETTO DIAGNOSTICO | METODICA | N.GENI |
|---|---|---|
|
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 |
|
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 |
| 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 |