Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
| AGL (AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFER, GLYCOGEN DEBRANCHER ENZYME) |
610860 |
GLYCOGEN STORAGE DISEASE, TYPE 3
» GSD TYPE 3
» FORBES DISEASE
» CORI DISEASE
» AMYLO-1,6-GLUCOSIDASE DEFICIENCY
» GLYCOGEN DEBRANCHER DEFICIENCY |
232400 |
|
1700 |
| DRD2 (DOPAMINE RECEPTOR D2) |
126450 |
MYOCLONIC DYSTONIA
» DYSTONIA, ALCOHOL-RESPONSIVE
» MYOCLONUS, HEREDITARY ESSENTIAL
» DYSTONIA 11, DYT11 |
159900 |
|
550 |
| FANCA |
607139 |
FANCONI ANEMIA
» FANCONI PANCYTOPENIA |
227650 |
Whole Gene, 14 Exons: Exons 1, 6, 7, 8, 11, 15, 16, 17, 19, 20, 32, 39, 42, 43, representing 25% of reported mutations or 8 Exons: Exons 13, 27, 29, 34-38, representing 67% of reported mutations |
Whole Gene: 5000
14 Exons: 1500
8 Exons: 1000 |
| FLT4 (FMS-LIKE TYROSINE KINASE 4, VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 3, VEGFR3) |
136253 |
LYMPHEDEMA, HEREDITARY, TYPE 1
» NONNE-MILROY LYMPHEDEMA
» MILROY DISEASE
» PRIMARY CONGENITAL LYMPHEDEMA |
153100 |
Whole Gene or 8 Exons: Exons 18-25, representing 90% of reported mutations |
Whole Gene: 1400
8 Exons: 550 |
| FOXC2 (FORKHEAD BOX C2) |
602402 |
LYMPHEDEMA-DISTICHIASIS SYNDROME |
153200 |
|
400 |
LYMPHEDEMA, HEREDITARY, TYPE 2
» MEIGE LYMPHEDEMA |
153400 |
|
400 |
| LYMPHEDEMA AND PTOSIS |
153000 |
|
400 |
| GAA (GLUCOSIDASE, ALPHA, ACID, ACID MALTASE) |
606800 |
GLYCOGEN STORAGE DISEASE, TYPE 2
» GSD TYPE 2
» ACID ALPHA-GLUCOSIDASE DEFICIENCY
» POMPE DISEASE
» GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
» CARDIOMEGALIA GLYCOGENICA DIFFUSA
» ACID MALTASE DEFICIENCY
» ALPHA-1,4-GLUCOSIDASE DEFICIENCY |
232300 |
|
1000 |
| GATA1 (GATA-BINDING PROTEIN 1; ERYTHROID TRANSCRIPTION FACTOR 1, GLOBIN TRANSCRIPTION FACTOR 1) |
305371 |
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA
» MACROTHROMBOCYTOPENIA (X-LINKED) |
300637 |
|
450 |
THROMBOCYTOPENIA, PLATELET DYSFUNCTION, HEMOLYSIS, AND IMBALANCED GLOBIN SYNTHESIS
» THROMBOCYTOPENIA WITH BETA-THALASSEMIA (X-LINKED) |
314050 |
|
450 |
| IVD (ISOVALERYL-CoA DEHYDROGENASE) |
607036 |
ISOVALERIC ACIDEMIA
» ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY |
243500 |
|
600 |
| LFNG (LUNATIC FRINGE) |
602576 |
SPONDYLOCOSTAL DYSOSTOSIS, TYPE 3 (AUTOSOMAL RECESSIVE) |
609813 |
|
500 |
| MANBA (MANNOSIDASE, BETA A, LYSOSOMAL) |
609489 |
MANNOSIDOSIS, BETA A, LYSOSOMAL
» BETA-MANNOSIDASE DEFICIENCY |
248510 |
|
1700 |
| MASTL (MICROTUBULE-ASSOCIATED SERINE/THREONINE KINASE-LIKE) |
608221 |
THROMBOCYTOPENIA, TYPE 2
» THROMBOCYTOPENIA (AUTOSOMAL DOMINANT) |
188000 |
|
650 |
| MCCC1 (3-@METHYLCROTONYL-CoA CARBOXYLASE 1; MCCA) |
609010 |
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 1 |
210200 |
|
950 |
| MCCC2 (3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCB) |
609014 |
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 2 |
210210 |
|
800 |
| MESP2 (MESODERM POSTERIOR 2) |
605195 |
SPONDYLOCOSTAL DYSOSTOSIS, TYPE 2 (AUTOSOMAL RECESSIVE) |
608681 |
|
450 |
| MR1 (MYOFIBRILLOGENESIS REGULATOR 1) |
609023 |
PAROXYSMAL NONKINESIGENIC DYSKINESIA
» PAROXYSMAL DYSTONIC CHOREOATHETOSIS
» MOUNT-REBACK SYNDROME
» CHOREOATHETOSIS, NONKINESIGENIC
» DYSTONIA 8, DYT8 |
118800 |
|
500 |
| PCCA (PROPIONYL-CoA CARBOXYLASE, ALPHA SUBUNIT) |
232000 |
PROPIONIC ACIDEMIA
» PROPIONYL-CoA CARBOXYLASE DEFICIENCY
» GLYCINEMIA, KETOTIC
» HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA
» KETOTIC HYPERGLYCINEMIA |
606054 |
|
1250 |
| PCCB (PROPIONYL-CoA CARBOXYLASE, BETA SUBUNIT) |
232050 |
PROPIONIC ACIDEMIA
» PROPIONYL-CoA CARBOXYLASE DEFICIENCY
» GLYCINEMIA, KETOTIC
» HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA
» KETOTIC HYPERGLYCINEMIA |
606054 |
|
800 |
| PFKM (PHOSPHOFRUCTOKINASE, MUSCLE TYPE) |
606800 |
GLYCOGEN STORAGE DISEASE, TYPE 7
» GSD TYPE 7
» TARUI DISEASE
» MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY |
232300 |
|
1050 |
| PHKA1 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT) |
311870 |
GLYCOGEN STORAGE DISEASE, TYPE 9D
» GSD TYPE 9D
» MUSCLE PHOSPHORYLASE KINASE DEFICIENCY
» MUSCLE GLYCOGENOSIS (X-LINKED) |
300559 |
|
1600 |
| PHKA2 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-2 SUBUNIT) |
306000 |
GLYCOGEN STORAGE DISEASE, TYPE 9A
» GSD TYPE 9A
» LIVER PHOSPHORYLASE KINASE DEFICIENCY
» LIVER GLYCOGENOSIS (X-LINKED)
» GLYCOGEN STORAGE DISEASE, TYPE 8
» GSD TYPE 8 |
306000 |
|
1600 |
| PHKG1 (PHOSPHORYLASE KINASE, MUSCLE, GAMMA-1) |
172470 |
|
|
|
500 |
| PYGL (GLYCOGEN PHOSPHORYLASE, LIVER) |
232700 |
GLYCOGEN STORAGE DISEASE, TYPE 6
» GSD TYPE 6
» HERS DISEASE
» GLYCOGEN PHOSPHORYLASE DEFICIENCY |
232700 |
|
1100 |
RUNX1 (RUNT-RELATED TRANSCRIPTION FACTOR 1, ACUTE MYELOID LEUKEMIA 1 GENE, AML1
CORE-BINDING FACTOR, RUNT DOMAIN, ALPHA SUBUNIT 2, CBFA2) |
151385 |
PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
» PLATELET DISORDER, ASPIRIN-LIKE
» THROMBOCYTOPENIA, FAMILIAL, WITH PROPENSITY TO ACUTE MYELOGENOUS LEUKEMIA |
601399 |
|
700 |
| RYR2 (RYANODINE RECEPTOR 2) |
180902 |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC
» VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC |
604772 |
|
1300 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 2
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 2 |
600996 |
|
1300 |
| SLC2A2 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER, MEMBER 2, GLUT2) |
138160 |
GLYCOGEN STORAGE DISEASE, TYPE 11
» GSD TYPE 11
» FANCONI-BICKEL SYNDROME
» HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME
» PSEUDO-PHLORIZIN DIABETES |
227810 |
|
650 |
| ZMPSTE24 (ZINC METALLOPROTEINASE STE24) |
606480 |
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
» LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA |
608612 |
|
700 |
TIGHT SKIN CONTRACTURE SYNDROME, LETHAL
» HYPERKERATOSIS-CONTRACTURE SYNDROME
» RESTRICTIVE DERMOPATHY, LETHAL
» FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY |
275210 |
|
700 |
