Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
| ARL6 (ADP-RIBOSYLATION FACTOR-LIKE 6; BBS3 GENE) |
608845 |
BARDET-BIEDL SYNDROME, BBS |
209900 |
|
600 |
| RETINITIS PIGMENTOSA TYPE 55, RP55 |
613575 |
|
600 |
| BIRC4 (BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; APOPTOSIS INHIBITOR 3; API3 INHIBITOR OF APOPTOSIS, X-LINKED; XIAP) |
300079 |
LYMPHOPROLIFERATIVE SYNDROME, TYPE 2 (X-LINKED), XLP2
» XIAP DEFICIENCY |
300635 |
|
1200 |
| CEL (CARBOXYL-ESTER LIPASE; LYSOPHOSPHOLIPASE; BILE SALT-STIMULATED LIPASE) |
114840 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION, MODY8
» DIABETES-PANCREATIC EXOCRINE DYSFUNCTION SYNDROME |
609812 |
|
770 |
| CHN1 (CHIMERIN 1; MERIN, ALPHA-1 GTPase-ACTIVATING PROTEIN, RHO, 2; ARHGAP2; MERIN, ALPHA-1 GTPase-ACTIVATING PROTEIN, RHO, 2; ARHGAP2) |
118423 |
DUANE RETRACTION SYNDROME, TYPE 2 |
604356 |
|
2300 |
| FBP1 (FRUCTOSE-1,6-BISPHOSPHATASE 1) |
611570 |
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY |
229700 |
|
650 |
| HAX1 (HCLS1-ASSOCIATED PROTEIN X1) |
605998 |
NEUTROPENIA, SEVERE CONGENITAL, TYPE 3 (AUTOSOMAL RECESSIVE)
» KOSTMANN DISEASE
» AGRANULOCYTOSIS, INFANTILE |
610738 |
|
770 |
| INF2 (INVERTED FORMIN 2) |
610982 |
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 5 |
613237 |
|
1250 |
| ITGA2B (INTEGRIN, ALPHA-2B; PLATELET GLYCOPROTEIN IIb; GP2B; PLATELET FIBRINOGEN RECEPTOR, ALPHA SUBUNIT; PLATELET-SPECIFIC ANTIGEN BAK) |
607759 |
THROMBASTHENIA OF GLANZMANN AND NAEGELI
» PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY
» PLATELET FIBRINOGEN RECEPTOR, DEFICIENCY OF |
273800 |
|
1450 |
| KLF11 (KRUPPEL-LIKE FACTOR 11;TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH RESPONSE 2; TIEG2) |
603301 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7, MODY7 |
610508 |
|
300 |
| LEP (LEPTIN) |
164160 |
OBESITY, SEVERE, DUE TO LEPTIN DEFICIENCY
» OBESITY, MORBID, WITH HYPOGONADISM |
601007 |
|
450 |
| LEPR (LEPTIN RECEPTOR) |
601007 |
OBESITY, SEVERE, DUE TO LEPTIN DEFICIENCY
» OBESITY, MORBID, WITH HYPOGONADISM |
601007 |
|
1800 |
| LRP2 (LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; GLYCOPROTEIN 330; MEGALIN) |
600073 |
DONNAI-BARROW SYNDROME
» FACIOOCULOACOUSTICORENAL SYNDROME
» DBS/FOAR SYNDROME
» DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA |
222448 |
|
2600 |
| MEF2C (MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C) |
600662 |
MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS |
613443 |
Whole Gene Sequencing or Deletion-Duplication Testing |
Whole Gene: 1200
Deletion-Duplication: 400 |
| PAX4 (PAIRED
BOX GENE 4) |
167413 |
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9, MODY9 |
612225 |
|
550 |
| DIABETES MELLITUS, KETOSIS-PRONE |
612227 |
|
550 |
| SLC2A2 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 2) |
138160 |
FANCONI-BICKEL SYNDROME
» HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME
» GLYCOGENOSIS, FANCONI TYPE
» GLYCOGEN STORAGE DISEASE, TYPE 11 |
227810 |
|
700 |
| SLC5A1 (SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1;SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1 |
182380 |
GLUCOSE/GALACTOSE MALABSORPTION
» MONOSACCHARIDE MALABSORPTION |
606824 |
|
950 |
| SLC25A15 (SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 15;ORNITHINE TRANSPORTER, MITOCHONDRIAL, 1) |
603861 |
HHH SYNDROME
» HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
» ORNITHINE TRANSLOCASE DEFICIENCY |
238970 |
|
500 |
| SLC34A3 (SOLUTE CARRIER FAMILY 34 (SODIUM/PHOSPHATE COTRANSPORTER), MEMBER 3; SODIUM/INORGANIC PHOSPHATE COTRANSPORTER, TYPE IIC; NPTIIC) |
609826 |
SODIUM/INORGANIC PHOSPHATE COTRANSPORTER, TYPE 2C, NPT2C
» HYPERCALCIURIC RICKETS |
241530 |
|
750 |
| TAB2 (TAK1-BINDING PROTEIN 2; MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN 2; MAP3K7IP2; TGF-BETA ACTIVATED KINASE 1) |
605101 |
LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION |
|
|
450 |
