| |
Mutation Panel
|
Positions |
Genes |
List of Genes
|
| 1 |
Thalassemia mutation panel |
76 |
2
|
beta-globin gene, delta-globin gene |
| 2 |
Hereditary hearing loss mutation panel |
198 |
6
|
Connexin 26, Connexin 30, Connexin 31, pendrin, mitochondrial DNA, prestin |
| 3 |
Cystic fibrosis mutation panel |
254 |
1
|
CFTR |
| 4 |
Ashkenazi Jewish diseases mutation panel |
77 |
22 |
HEX A, BLM, ASPA, SMPD1, IKBKAP, DYT1, MEFV,MCOLN1, FANCC, F11, G6PC, BCKHDB, GJB2, LDLR, DLD, GDE, SERPINA1, NEB, PCDH15, ABCC8, GBA, CFTR |
| 5 |
Stargardt disease, age related macular degeneration, cone-rod dystrophy mutation panel |
555 |
1 |
ABCA4 |
| 6 |
Bardet Biedl mutation panel |
312 |
14 |
BBS1, BBS2, BBS3, BBS4, BBS5, BBS6, BBS7, BBS8, BBS9, BBS10,BBS12, PHF6, ALMS1, GNAS1 |
| 7 |
Corneal dystrophy mutation panel |
328 |
13 |
COL8A2, TGFBI, VSX1, CHST6, KRT3, KRT12, GSN, TACSTD2, CYP4V2, SOD1, TCF8/ZEB1, SLC4A11, UBIAD1
|
| 8 |
Congenital stationary night blindness mutation panel |
126 |
9 |
RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX, CACNA1F, CACNA2D |
| 9 |
Vitelliform macular dystrophy mutation panel |
138
|
1
|
BEST1 |
10
|
Autosomal dominant retinitis pigmentosa mutation panel
|
385
|
16
|
Ca4, FSCN2, IMPDH1, NRL, PRPF3, PRPF31, PRPF8, RDS, RHO, ROM1, RP1, RP9, CRX, TOPORS, PNR, KLHL7
|
11
|
Autosomal dominant optic atrophy mutation panel
|
118
|
1
|
OPA-1
|