Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
| ABCC9 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; SULFONYLUREA RECEPTOR 2; SUR2) |
601439 |
CARDIOMYOPATHY, DILATED, TYPE 1O |
608569 |
|
1700 |
| ACE (ANGIOTENSIN I-CONVERTING ENZYME;DIPEPTIDYL CARBOXYPEPTIDASE 1, KININASE 2) |
106180 |
RENAL TUBULAR DYSGENESIS
» RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA |
267430 |
|
1800 |
| ACTN2 (ACTININ, ALPHA-2) |
102573 |
CARDIOMYOPATHY, DILATED, TYPE 1AA |
612158 |
|
1500 |
| ACVR1 (ACTIVIN A RECEPTOR, TYPE 1; ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2) |
102576 |
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, FOP |
135100 |
c.617G>A (Arg206His) |
350 |
| AGT (ANGIOTENSINOGEN, SERPINA8, ANGIOTENSIN) |
106150 |
RENAL TUBULAR DYSGENESIS
» RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA |
267430 |
|
700 |
| AGTR1 (ANGIOTENSIN RECEPTOR 1) |
106165 |
RENAL TUBULAR DYSGENESIS
» RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA |
267430 |
|
400 |
| ARL13B (ADP-RIBOSYLATION FACTOR-LIKE 13B, ARL2-LIKE PROTEIN 1) |
608922 |
JOUBERT SYNDROME, TYPE 8 |
612291 |
|
1300 |
| BBS6 (MKKS, MKS) |
604896 |
BARDET-BIEDL SYNDROME TYPE 6, BBS6 |
209900 |
|
700 |
MCKUSICK-KAUFMAN SYNDROME
» HYDROMETROCOLPOS SYNDROME
» HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION |
236700 |
|
700 |
| CEBPA (CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; C/EBP-ALPHA) |
116897 |
LEUKEMIA, ACUTE MYELOID, AML |
601626 |
|
350 |
| CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM DOMAIN PROTEIN, CARDIAC) |
600824 |
CARDIOMYOPATHY, DILATED, TYPE 1M |
607482 |
|
900 |
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, TYPE 12 |
612124 |
|
900 |
| CTF1 (CARDIOTROPHIN 1) |
600435 |
CARDIOMYOPATHY, DILATED |
|
|
800 |
| FTCD (FORMIMINOTRANSFERASE CYCLODEAMINASE) |
606806 |
FORMIMINOTRANSFERASE DEFICIENCY
» GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
» FORMIMINOGLUTAMIC ACIDURIA
» FIGLU-URIA |
229100 |
|
1500 |
| ICHTHYIN (ICHYN) |
609383 |
ICHTHYOSIS, CONGENITAL (AUTOSOMAL RECESSIVE), ICHTHYIN-RELATED |
612281 |
|
900 |
| IMPDH1 (IMP DEHYDROGENASE 1;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE 1) |
146690 |
RETINITIS PIGMENTOSA 10, RP10 |
180105 |
|
700 |
| LEBER CONGENITAL AMAUROSIS, TYPE 11, LCA11 |
146690 |
|
700 |
| KIT (V-KIT HARDY-ZUCKERMAN 4 FELINE SARCOMA VIRAL ONCOGENE HOMOLOG, MAST CELL GROWTH FACTOR RECEPTOR, STEM CELL FACTOR RECEPTOR) |
164920 |
PIEBALD TRAIT
» PIEBALDISM |
172800 |
|
900 |
| LDB3 (LIM DOMAIN-BINDING 3, ZASP, CYPHER) |
605906 |
CARDIOMYOPATHY, DILATED, TYPE 1C
» CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION |
601493 |
|
950 |
| MYOPATHY, MYOFIBRILLAR, ZASP-RELATED |
609452 |
|
950 |
| PLN (PHOSPHOLAMBAN) |
172405 |
CARDIOMYOPATHY, DILATED, TYPE 1P |
609909 |
|
300 |
| REN (RENIN) |
179820 |
RENAL TUBULAR DYSGENESIS
» RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA |
267430 |
|
1300 |
| HYPERPRORENINEMIA, FAMILIAL |
179820 |
|
1300 |
| SGCA, SGCB, SGCD, SGCG |
|
MUSCULAR DYSTROPHY, LIMB-GIRDLE |
|
Deletions-Duplications |
350 |
| SIL1 (SIL1, S. CEREVISIAE, HOMOLOG OF, BIP-ASSOCIATED PROTEIN, BAP) |
608005 |
MARINESCO-SJOGREN SYNDROME |
248800 |
|
1200 |
| TRPV4 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; VANILLOID RECEPTOR-RELATED OSMOTICALLY ACTIVATED CHANNEL; OSM9-LIKE TRANSIENT RECEPTOR POTENTIAL CHANNEL 4; TRANSIENT RECEPTOR POTENTIAL CHANNEL 12) |
605427 |
BRACHYOLMIA, TYPE 3
» BRACHYOLMIA (AUTOSOMAL DOMINANT)
» BRACHYRACHIA |
113500 |
|
1600 |
| SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE |
184252 |
|
1600 |
METATROPIC DYSPLASIA
» METATROPIC DWARFISM |
156530 |
|
1600 |
| TSEN54 (tRNA SPLICING ENDONUCLEASE 54, S. CEREVISIAE, HOMOLOG OF; SEN54) |
608755 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 2A, PCH2A
» VOLENDAM NEURODEGENERATIVE DISEASE
» PONTOCEREBELLAR HYPOPLASIA WITH PROGRESSIVE CEREBRAL ATROPHY |
277470 |
|
1500 |
PONTOCEREBELLAR HYPOPLASIA, TYPE 4, PCH4
» ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA |
225753 |
|
1500 |
| VCL (VINCULIN, METAVINCULIN) |
193065 |
CARDIOMYOPATHY, DILATED, TYPE 1W |
611407 |
|
1500 |
| VSX2 (VISUAL SYSTEM HOMEOBOX GENE 2, ZEBRAFISH, HOMOLOG OF) |
. |
MICROPHTHALMIA |
. |
|
690 |
