Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
| CACNA1C (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNL1A1; CCHL1A1; CaV1.2) |
114205 |
BRUGADA SYNDROME, TYPE 3 |
611875 |
|
300 |
TIMOTHY SYNDROME
» LONG QT SYNDROME WITH SYNDACTYLY |
601005 |
|
300 |
| ERCC4 (EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 4; XPF) |
133520 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F, XPF
» XERODERMA PIGMENTOSUM, TYPE 6, XP6 |
278760 |
|
1000 |
XFE PROGEROID SYNDROME
» XPF-ERCC1 PROGEROID SYNDROME |
610965 |
|
1000 |
| ERCC5 (EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5; ERCM2, XPG, XPGC, UVDR) |
133530 |
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G, XPG
» XERODERMA PIGMENTOSUM, TYPE 7, XP7
» XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME, INCLUDED
» CEREBROOCULOFACIOSKELETAL SYNDROME, TYPE 3, COFS3 |
278780 |
|
1000 |
| FAM126A (FAMILY WITH SEQUENCE SIMILARITY 126, MEMBER A; DOWNREGULATED BY CTNNB1, PROTEIN A; DRCTNNB1A; HYCCIN) |
610531 |
LEUKODYSTROPHY, HYPOMYELINATING, TYPE 5
» HYPOMYELINATION AND CONGENITAL CATARACT |
610532 |
|
1000 |
| GCM2 (GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 2; GCMB) |
603716 |
HYPOPARATHYROIDISM, FAMILIAL ISOLATED
» HYPOPARATHYROIDISM (AUTOSOMAL DOMINANT)
» HYPOCALCEMIA (AUTOSOMAL DOMINANT)
» HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL |
146200 |
|
480 |
| LMNB1 (LAMIN B1) |
150340 |
LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET (AUTOSOMAL DOMINANT), ADLD
» PELIZAEUS-MERZBACHER DISEASE (AUTOSOMAL DOMINANT) OR LATE-ONSET TYPE, FORMERLY |
169500 |
|
350 |
| RNU4ATAC (RNA, U4ATAC SMALL NUCLEAR; RNA, U4, SMALL NUCLEAR, AT-AC FORM; U4ATAC) |
601428 |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MOPD1
» TAYBI-LINDER SYNDROME
» BRACHYMELIC PRIMORDIAL DWARFISM
» CEPHALOSKELETAL DYSPLASIA |
210710 |
|
480 |
| SHOC2 (SUPPRESSOR OF CLEAR, C. ELEGANS, HOMOLOG OF; RAS-BINDING PROTEIN SUR8, C. ELEGANS, HOMOLOG OF; SUR8) |
602775 |
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR |
607721 |
|
250 |
|
