Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
ACTC (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH MUSCLE ACTIN) |
1002540 |
DILATED CARDIOMYOPATHY |
|
See ACTC, MYL2 and MYL3 |
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC |
192600 |
See ACTC, MYL2 and MYL3 |
|
ACTC
MYL2
MYL3 |
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC |
|
19 Exons |
1100 |
| BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) |
164757 |
CARDIOFACIOCUTANEOUS SYNDROME, CFC |
115150 |
|
1000 |
| LYMPHOMA, NON-HODGKIN |
|
|
1000 |
| NONSMALL CELL LUNG CANCER, SOMATIC |
|
|
1000 |
| ADENOCARCINOMA OF LUNG, SOMATIC |
|
|
1000 |
| COLORECTAL CANCER, SOMATIC |
|
|
1000 |
| THYROID CARCINOMA, PAPILLARY, SOMATIC |
|
|
1000 |
| MELANOMA, MALIGNANT, SOMATIC |
|
|
1000 |
BSCL2 (SEIPIN) |
606158 |
FAMILIAL SPASTIC PARAPLEGIA 17, SPG17
» SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET
» SILVER SYNDROME
» SILVER SPASTIC PARAPLEGIA SYNDROME
» SPINAL MUSCULAR ATROPHY, DISTAL, TYPE 5, DSMA5 |
270685 |
2 Mutations: N88S, S90L |
160 |
CASQ2 (CALSEQUESTRIN 2) |
114251 |
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC
» VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC |
604772 |
|
650 |
CHEK2 (CHECKPOINT KINASE 2) |
604373 |
LI-FRAUMENI SYNDROME 2 |
609265 |
|
1000 |
| BREAST CANCER, FAMILIAL |
114480 |
|
1000 |
COL6A1 (COLLAGEN, TYPE 6, ALPHA-1)
and
COL6A2 (COLLAGEN, TYPE 6, ALPHA-2)
and
COL6A3 (COLLAGEN, TYPE 6, ALPHA-3) |
|
BETHLEM MYOPATHY
» MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES
» MUSCULAR DYSTROPHY, BENIGN CONGENITAL |
158810 |
3 Genes Together |
2500 |
| ULLRICH CONGENITAL MUSCULAR DYSTROPHY |
254090 |
3 Genes Together |
2500 |
DES (DESMIN) |
125660 |
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
» DESMINOPATHY, PRIMARY |
601419 |
|
650 |
| DILATED CARDIOMYOPATHY, 1I, CMD1I |
604765 |
|
650 |
| FBLN4 (FIBULIN 4, EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2, EFEMP2) |
607844 |
CUTIS LAXA (AUTOSOMAL RECESSIVE) |
219100 |
|
800 |
| FBLN5 (FIBULIN 5) |
604580 |
CUTIS LAXA (AUTOSOMAL RECESSIVE) |
219100 |
|
800 |
| CUTIS LAXA (AUTOSOMAL DOMINANT) |
123700 |
|
800 |
HSPD1 (HSP60, HEAT-SHOCK 60-KD PROTEIN 1, HSPD1, CHAPERONIN) |
118190 |
FAMILIAL SPASTIC PARAPLEGIA 13, (AUTOSOMAL DOMINANT), SPG13 |
605280 |
1 Mutation: V72I |
160 |
KCNJ2 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2, KIR2.1) |
600681 |
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
» ANDERSEN SYNDROME LONG QT SYNDROME 7, LQT7
» PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
» ANDERSEN-TAWIL SYNDROME |
170390 |
|
400 |
| SHORT QT SYNDROME 3, SQT3 |
609622 |
|
400 |
| KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) |
190070 |
NOONAN SYNDROME, TYPE 3 |
609942 |
|
450 |
| CARDIOFACIOCUTANEOUS SNDROME, CFCY |
115150 |
|
450 |
| LEUKEMIA, ACUTE MYELOGENOUS |
|
|
450 |
| STOMACH CANCER |
|
|
450 |
| PANCREATIC CARCINOMA |
|
|
450 |
| BLADDER CANCER, TRANSITIONAL CELL |
|
|
450 |
| BREAST CANCER, FAMILIAL |
114480 |
|
450 |
| LUNG CANCER, SQUAMOUS CELL |
|
|
450 |
LAMP2 (LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2) |
309060 |
DANON DISEASE
» VACUOLAR CARDIOMYOPATHY AND MYOPATHY (X-LINKED)
» LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY
» GLYCOGEN STORAGE CARDIOMYOPATHY
» PSEUDOGLYCOGENOSIS 2
GLYCOGEN STORAGE DISEASE LIMITED TO THE HEART
» ANTOPOL DISEASE
» GLYCOGEN STORAGE DISEASE 2B |
300257 |
|
650 |
| LEMD3 (LEM DOMAIN-CONTAINING 3, MAN1) |
607844 |
BUSCHKE-OLLENDORFF SYNDROME
» DERMATOOSTEOPOIKILOSIS
» DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS
» DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS
» OSTEOPATHIA CONDENSANS DISSEMINATA
» OSTEOPOIKILOSIS, ISOLATED, INCLUDED |
166700 |
|
800 |
MELORHEOSTOSIS
» MELORHEOSTOSIS WITH OSTEOPOIKILOSIS |
155950 |
|
800 |
| MSK1 |
609883 |
MECKEL SYNDROME, TYPE 1
» DYSENCEPHALIA SPLANCHNOCYSTICA
» GRUBER SYNDROME
» MECKEL-GRUBER SYNDROME |
249000 |
|
150 |
MYBPC3 (MYOSIN-BINDING PROTEIN C, CARDIAC) |
600958 |
CARDIOMYOPATHY, DILATED |
|
See MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 |
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 4A, CMD4A
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC |
115197 |
See MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 |
|
MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) |
160760 |
DILATED CARDIOMYOPATHY |
|
See MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 |
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC |
192600 |
See MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 |
|
MYOPATHY, MYOSIN STORAGE
» MYOPATHY, HYALINE BODY (AUTOSOMAL DOMINANT) |
608358 |
See MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 |
|
MYOPATHY, DISTAL 1, MPD1
» LAING DISTAL MYOPATHY
» MYOPATHY, DISTAL, EARLY-ONSET (AUTOSOMAL DOMINANT) |
160500 |
See MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 |
|
MYH7
MYBPC3
TNNT2
TNNI3
TPM1 |
|
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC |
|
106 Exons |
2800 |
| MYH11 (MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE, SMOOTH MUSCLE MYOSIN HEAVY CHAIN) |
160745 |
AORTIC ANEURYSM, FAMILIAL THORACIC 4
» AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS |
132900 |
|
1300 |
MYL2 (MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW) |
160781 |
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 10, CMH10
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 2 |
608758 |
See ACTC, MYL2 and MYL3 |
|
MYL3 (MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW, ESSENTIAL LIGHT CHAIN OF MYOSIN) |
160790 |
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 8, CMH8
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 1 |
608751 |
See ACTC, MYL2 and MYL3 |
|
MYO7A (MYOSIN 7A) |
276903 |
USHER SYNDROME, TYPE 1B, USH1B
» USHER SYNDROME, TYPE 1, NON-ACADIAN VARIETY |
276903 |
|
1600 |
NIPA1 (NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME REGION 1) |
608145 |
FAMILIAL SPASTIC PARAPLEGIA 6 (AUTOSOMAL DOMINANT), SPG6 |
600363 |
1 Mutation: T45R |
160 |
PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1) |
300502 |
PYRUVATE DECARBOXYLASE DEFICIENCY
» ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM
» PYRUVATE DEHYDROGENASE DEFICIENCY
» PDH DEFICIENCY
» ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE, OR DECARBOXYLASE, DEFICIENCY
» ATAXIA WITH LACTIC ACIDOSIS I LACTIC ACIDEMIA, THIAMINE-RESPONSIVE
» THIAMINE-RESPONSIVE LACTIC ACIDEMIA
» PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY |
312170 |
|
400 |
PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2, AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2) |
602743 |
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME |
600858 |
|
650 |
GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
» PHOSPHORYLASE KINASE DEFICIENCY OF HEART
» GLYCOGEN STORAGE DISEASE OF HEART |
261740 |
|
650 |
| SCO2 |
604272 |
CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF |
220110 |
|
270 |
CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
» CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY |
604377 |
|
270 |
| SLC2A10 (SOLUTE CARRIER FAMILY 2 - FACILITATED GLUCOSE TRANSPORTER, MEMBER 10, GLUCOSE TRANSPORTER 10, GLUT10) |
606145 |
ARTERIAL TORTUOSITY SYNDROME, ATS |
208050 |
|
800 |
| TMEM67 (TRANSMEMBRANE PROTEIN 67, MKS3, MECKELIN) |
609884 |
MECKEL SYNDROME, TYPE 3 |
607361 |
|
150 |
TNNI3 (TROPONIN I, CARDIAC)
|
191044 |
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 7, CMH7
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC |
191044 |
See MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 |
|
| CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 |
115210 |
See MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 |
|
| TNNT2 |
191045 |
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 2, CMH2
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC |
115195 |
See MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 |
|
| DILATED CARDIOMYOPATHY, 1D, CMD1D |
601494 |
See MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 |
|
TPM1 (TROPOMYOSIN 1) |
191010 |
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 3, CMH3
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC |
115196 |
See MYH7, MYBPC3, TNNT2, TNNI3 and TPM1 |
|
|
