Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
| AXIN2 (AXIS INHIBITOR 2, CONDUCTIN) |
604433 |
OLIGODONTIA-COLORECTAL CANCER SYNDROME
» TOOTH AGENESIS-COLORECTAL CANCER SYNDROME |
608615 |
|
800 |
| COLORECTAL CANCER, SOMATIC |
114500 |
|
800 |
| CACNB4 (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT) |
601949 |
EPILEPSY, JUVENILE MYOCLONIC, JME
» JANZ SYNDROME |
606904 |
|
1300 |
EPILEPSY, IDIOPATHIC GENERALIZED
» EPISODIC ATAXIA, TYPE 5, EA5 |
600669 |
|
1300 |
| CLCN2 |
600570 |
EPILEPSY, JUVENILE MYOCLONIC, JME
» JANZ SYNDROME |
606904 |
|
1900 |
| EPILEPSY, JUVENILE ABSENCE |
607631 |
|
1900 |
| EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING |
607628 |
|
1900 |
| COL6A1, COL6A2, COL6A3 |
120220and
120240
and
120250 |
BETHLEM MYOPATHY
» MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES
» MUSCULAR DYSTROPHY, BENIGN CONGENITAL |
158810 |
3 Genes |
2700 |
ULLRICH CONGENITAL MUSCULAR DYSTROPHY
» MUSCULAR DYSTROPHY, SCLEROATONIC |
254090 |
3 Genes |
2700 |
| CYP17A1 (CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; STEROID 17-ALPHA-MONOOXYGENASE) |
609300 |
ADRENAL HYPERPLASIA, TYPE 5
» 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY
» 17-@ALPHA-HYDROXYLASE DEFICIENCY |
202110 |
|
850 |
| ERCC8 (EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; CSA) |
609412 |
COCKAYNE SYNDROME, TYPE 1
» COCKAYNE SYNDROME, TYPE A |
216400 |
|
1000 |
| F2 (FACTOR 2; COAGULATION FACTOR 2; THROMBIN; PROTHROMBIN) |
176930 |
HYPOPROTHROMBINEMIA
» DYSPROTHROMBINEMIA
» HYPERPROTHROMBINEMIA |
176930 |
|
2800 |
| F5 (COAGULATION FACTOR 5; FACTOR 5 LEIDEN; APC COFACTOR) |
612309 |
FACTOR V DEFICIENCY
» OWREN PARAHEMOPHILIA
» LABILE FACTOR DEFICIENCY |
227400 |
|
1500 |
| F10 (COAGULATION FACTOR 10) |
227600 |
FACTOR X DEFICIENCY
» STUART-PROWER FACTOR DEFICIENCY |
227600 |
|
1100 |
| FGFR2 |
176943 |
DIFFERENT DISEASES |
|
Whole Gene |
650 |
| FGFR3 |
134934 |
DIFFERENT DISEASES |
|
Whole Gene |
1300 |
| FZD4 (FRIZZLED, DROSOPHILA, HOMOLOG OF, 4) |
604579 |
EXUDATIVE VITREORETINOPATHY, TYPE 1
» CRISWICK-SCHEPENS SYNDROME
» RETINOPATHY OF PREMATURITY |
133780 |
|
500 |
| GABRA1 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABA-A RECEPTOR, ALPHA-1 POLYPEPTIDE) |
137160 |
EPILEPSY, JUVENILE MYOCLONIC, JME
» JANZ SYNDROME |
606904 |
|
1200 |
| EPILEPSY, CHILDHOOD ABSENCE, TYPE 4, ECA4 |
611136 |
|
1200 |
| GABRD (GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA;GABA-A RECEPTOR, DELTA POLYPEPTIDE) |
137163 |
GENERALIZED
EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+
» GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE
2
» FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES |
604233 |
|
900 |
| GLRB (GLYCINE RECEPTOR, BETA SUBUNIT) |
138492 |
HYPEREKPLEXIA
» STARTLE DISEASE
» KOK DISEASE
» STIFF BABY SYNDROME |
149400 |
|
650 |
| HPRP3 (PRECURSOR mRNA-PROCESSING FACTOR 3, S. CEREVISIAE, HOMOLOG OF) |
607301 |
RETINITIS PIGMENTOSA 18, RP18 |
601414 |
|
1400 |
| HPS3 |
606118 |
HERMANSKY-PUDLAK SYNDROME |
203300 |
Whole Gene |
1400 |
| HSD3B2 (3-@BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA-ISOMERASE, TYPE 2) |
201810 |
ADRENAL HYPERPLASIA, TYPE 2
» 3-@BETA-HYDROXYSTEROID DEHYDROGENASE, DEFICIENCY OF, TYPE 2
» 3-@BETA-HSD DEFICIENCY |
201810 |
|
550 |
| KCNE3 (POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3) |
604433 |
HYPOKALEMIC PERIODIC PARALYSIS, HOKPP
» HYPERKALEMIC PERIODIC PARALYSIS |
170400 |
|
350 |
| KCNQ3 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 3) |
602232 |
EPILEPSY, BENIGN NEONATAL, TYPE 2
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 2 |
121201 |
|
1400 |
| LGI1 (LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; EPITEMPIN) |
604619 |
EPILEPSY, LATERAL TEMPORAL LOBE (AUTOSOMAL DOMINANT), ADLTE
» EPILEPSY, PARTIAL, WITH AUDITORY FEATURES, ADPEAF |
600512 |
|
750 |
| MSX1 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 1) |
142983 |
OROFACIAL CLEFT, TYPE 5
» CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, TYPE 5 |
106600 |
|
800 |
TOOTH AGENESIS, SELECTIVE, TYPE 1
» HYPODONTIA/OLIGODONTIA, TYPE 1 |
189500 |
|
800 |
WITKOP SYNDROME
» NAIL DYSPLASIA WITH HYPODONTIA
» TOOTH-AND-NAIL SYNDROME |
608874 |
|
800 |
| PEX7 (PEROXISOME BIOGENESIS FACTOR 7, PEROXIN 7) |
601757 |
REFSUM DISEASE
» PHYTANIC ACID OXIDASE DEFICIENCY
» HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 4, HMSN4 |
266500 |
|
1300 |
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
» CHONDRODYSTROPHIA CALCIFICANS PUNCTATA |
215100 |
|
1300 |
| PHYH (PHYTANOYL-CoA HYDROXYLASE) |
602026 |
REFSUM DISEASE
» PHYTANIC ACID OXIDASE DEFICIENCY
» HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 4, HMSN4 |
266500 |
|
1200 |
| PMS2 |
600259 |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2
» LYNCH CANCER FAMILY SYNDROME, TYPE 2 |
114400 |
|
800 |
MISMATCH REPAIR CANCER SYNDROME
» TURCOT SYNDROME BRAIN TUMOR
» POLYPOSIS SYNDROME 1
» MMR DEFICIENCY
» MISMATCH REPAIR DEFICIENCY |
276300 |
|
800 |
| PRPF8 (PRECURSOR mRNA-PROCESSING FACTOR 8, S. CEREVISIAE, HOMOLOG OF) |
607300 |
RETINITIS PIGMENTOSA 13, RP13 |
600059 |
|
3100 |
| SCN9A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT) |
603415 |
ERYTHERMALGIA, PRIMARY |
133020 |
|
900 |
INDIFFERENCE TO PAIN, CONGENITAL (AUTOSOMAL RECESSIVE)
» INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
» CONGENITAL ANALGESIA (AUTOSOMAL RECESSIVE) |
243000 |
|
900 |
PAROXYSMAL EXTREME PAIN DISORDER
» PAIN, SUBMANDIBULAR, OCULAR, AND RECTAL, WITH FLUSHING |
167400 |
|
900 |
| SYCP3 (SYNAPTONEMAL COMPLEX PROTEIN 3) |
604759 |
PREGNANCY LOSS, SUSCEPTIBILITY TO |
. |
|
700 |
AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS
» AZOOSPERMIA WITH MATURATION ARREST |
270960 |
|
700 |
