Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
| APRT (ADENINE PHOSPHORIBOSYLTRANSFERASE) |
102600 |
APRT DEFICIENCY |
102600 |
|
400 |
| BBS10 |
610148 |
BARDET-BIEDL SYNDROME TYPE 10, BBS10 |
209900 |
|
1000 |
| BBS12 |
610683 |
BARDET-BIEDL SYNDROME TYPE 12, BBS12 |
209900 |
|
1000 |
| CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) |
100690 |
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a |
601462 |
|
650 |
| MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL |
608930 |
|
650 |
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
» PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE |
253290 |
|
650 |
| CHRNB1 (CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1;ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT ) |
100710 |
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a |
601462 |
|
650 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
» MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL DYSMORPHISM |
608931 |
|
650 |
| CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT) |
100725 |
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL |
608930 |
|
650 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
» MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL DYSMORPHISM |
608931 |
|
650 |
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a |
601462 |
|
650 |
| CHRND (CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT) |
100720 |
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL |
608930 |
|
750 |
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a |
601462 |
|
750 |
| CRTAP (CARTILAGE-ASSOCIATED PROTEIN) |
605497 |
OSTEOGENESIS IMPERFECTA, TYPE 7, OI7 |
610682 |
|
850 |
| ELN (ELASTIN) |
130160 |
SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE |
185500 |
Sequencing, MLPA or Both |
Sequencing: 1300
MLPA: 400
Both: 1600 |
| CUTIS LAXA (AUTOSOMAL DOMINANT) |
123700 |
Sequencing, MLPA or Both |
Sequencing: 1300
MLPA: 400
Both: 1600 |
| GP1BA (GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE, GLYCOCALICIN) |
606672 |
BERNARD-SOULIER SYNDROME
» GIANT PLATELET SYNDROME
» VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY |
231200 |
|
350 |
PSEUDO-VON WILLEBRAND DISEASE
» VON WILLEBRAND DISEASE, PLATELET-TYPE |
177820 |
|
350 |
| GP9 (GLYCOPROTEIN IX, PLATELET) |
173515 |
BERNARD-SOULIER SYNDROME
» GIANT PLATELET SYNDROME
» VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY |
231200 |
|
200 |
| HSPD1 (HEAT-SHOCK 60-KD PROTEIN 1, SPG13) |
118190 |
SPASTIC PARAPLEGIA 13 (AUTOSOMAL DOMINANT) |
118190 |
|
900 |
| HSPG2 (PERLECAN, HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE) |
142461 |
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
» ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE |
224410 |
|
4400 |
SCHWARTZ-JAMPEL SYNDROME, TYPE 1
» SJA SYNDROME
» MYOTONIC MYOPATHY, DWARFISM, CHONDRODYSTROPHY, AND OCULAR AND FACIAL ABNORMALITIES
» CHONDRODYSTROPHIC MYOTONIA |
255800 |
|
4400 |
| LAMB2 (LAMININ, BETA-2) |
150325 |
PIERSON SYNDROME
» MICROCORIA-CONGENITAL NEPHROTIC SYNDROME
» NEPHROTIC SYNDROME, CONGENITAL, WITH OR WITHOUT OCULAR ABNORMALITIES, INCLUDED |
609049 |
|
1400 |
LEPRE1 (LEUCINE- AND PROLINE-ENRICHED PROTEOGLYCAN 1, LEPRECAN, PROLYL 3-HYDROXYLASE 1) |
610339 |
OSTEOGENESIS IMPERFECTA, TYPE 8, OI8 |
610915 |
|
850 |
MMAA |
607481 |
METHYLMALONIC ACIDURIA, cblA TYPE
» METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE |
251100 |
|
850 |
MMAB (COBALAMIN ADENOSYLTRANSFERASE) |
607568 |
METHYLMALONIC ACIDURIA, cblB TYPE
» METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE |
251110 |
|
1000 |
| MMACHC |
609831 |
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
» VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-CoA MUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE |
277400 |
|
700 |
| OFD1 (CHROMOSOME X OPEN READING FRAME 5; CXORF5) |
300170 |
OROFACIODIGITAL SYNDROME, TYPE 1
» OFD SYNDROME, TYPE 1
» PAPILLON-LEAGUE-PSAUME SYNDROME |
311200 |
|
1700 |
| SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 |
300209 |
|
1700 |
| PLOD1 (PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; LYSYL HYDROXYLASE) |
153454 |
EHLERS-DANLOS TYPE 6, EDS 6
» EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE |
225400 |
Whole Gene Sequencing or Duplication Exons 10-16 |
Whole Gene Sequencing: 2300
Duplication Exons: 350 |
| POMC (PROOPIOMELANOCORTIN) |
176830 |
PROOPIOMELANOCORTIN DEFICIENCY
» OBESITY, EARLY-ONSET, ADRENAL INSUFFICIENCY, AND RED HAIR |
609734 |
|
250 |
| RAF1 (V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1) |
164760 |
LEOPARD SYNDROME, TYPE 2 |
611554 |
|
1800 |
| NOONAN SYNDROME, TYPE 5 |
611553 |
|
1800 |
| RAPSN (RAPSYN, RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD) |
601562 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
» MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL DYSMORPHISM |
608931 |
|
750 |
FETAL AKINESIA DEFORMATION SEQUENCE
» PENA-SHOKEIR SYNDROME, TYPE 1
» ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA |
208150 |
|
750 |
| RPGRIP1L (RPGRIP1-LIKE) |
610937 |
JOUBERT SYNDROME, TYPE 7 |
611560 |
|
1500 |
| MECKEL SYNDROME, TYPE 5 |
611561 |
|
1500 |
SIX6 |
606326 |
MICROPHTHALMIA, ISOLATED, WITH CATARACT 2 |
212550 |
|
550 |
