Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
AHI1 (ABELSON
HELPER INTEGRATION SITE 1, JOUBERIN)
|
608894 |
JOUBERT
SYNDROME 3, JBTS3 |
608629 |
|
150 |
APTX (APRATAXIN)
|
606350 |
ATAXIA,
EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
» ATAXIA-OCULOMOTOR
APRAXIA SYNDROME
» ATAXIA-OCULOMOTOR
APRAXIA 1
» ATAXIA-TELANGIECTASIA-LIKE
SYNDROME
» CEREBELLAR
ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA
» ATAXIA,
ADULT-ONSET, WITH OCULOMOTOR APRAXIA |
208920 |
|
1300 |
CDAN1 (CODANIN
1, DISCS LOST, DROSOPHILA, HOMOLOG OF)
|
607465 |
ANEMIA,
DYSERYTHROPOIETIC CONGENITAL, TYPE 1
» DYSERYTHROPOIETIC
ANEMIA, CONGENITAL, TYPE 1 |
224120 |
|
2000 |
CEP290 (CENTROSOMAL
PROTEIN, 290-KD, NEPHROCYSTIN 6; NPHP6)
|
610142 |
JOUBERT
SYNDROME 5, JBTS5 |
610188 |
|
150 |
| SENIOR-LOKEN
SYNDROME TYPE 6, SLSN6 |
610189 |
|
150 |
LEBER
CONGENITAL AMAUROSIS, TYPE 1, LCA1
» RETINAL
BLINDNESS, CONGENITAL |
204000 |
|
150 |
| CYP11B1 (CYTOCHROME
P450, SUBFAMILY 11B, POLYPEPTIDE 1, STEROID 11-BETA-HYDROXYLASE,
P450C11) |
610613 |
ADRENAL
HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
DEFICIENCY
» ADRENAL
HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE
DEFICIENCY
» ADRENAL
HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1
DEFICIENCY |
202010 |
CYP11B1/
CYP11B2 fusion |
300 |
| CYP11B2 (CYTOCHROME
P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE, STEROID 18-OXIDASE, ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE) |
124080 |
CORTICOSTERONE
METHYLOXIDASE TYPE 1 DEFICIENCY
» ALDOSTERONE
DEFICIENCY 1
» HYPERRENINEMIC
HYPOALDOSTERONISM, FAMILIAL, 1
» ALDOSTERONE
DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE
» 18-@HYDROXYLASE
DEFICIENCY
» STEROID
18-@HYDROXYLASE DEFICIENCY |
203400
|
|
1500 |
FLG (FILAGGRIN,
PROFILAGGRIN)
|
135940 |
ICHTHYOSIS
VULGARIS
» ICHTHYOSIS
SIMPLEX |
146700
|
|
500 |
GM2A (GM2-ACTIVATOR)
|
272750 |
TAY-SACHS
DISEASE, AB VARIANT
» HEXOSAMINIDASE
ACTIVATOR DEFICIENCY
» GM2-GANGLIOSIDOSIS,
TYPE AB
» AB
VARIANT GM2-GANGLIOSIDOSIS |
272750 |
|
700 |
| GP1BB (GLYCOPROTEIN
Ib, PLATELET, BETA POLYPEPTIDE) |
138720 |
GIANT
PLATELET SYNDROME
» BERNARD-SOULIER
SYNDROME
» PLATELET
GLYCOPROTEIN Ib DEFICIENCY
» GLYCOPROTEIN
Ib, PLATELET, DEFICIENCY OF
» VON
WILLEBRAND FACTOR RECEPTOR DEFICIENCY
» MACROTHROMBOCYTOPENIA,
FAMILIAL, BERNARD-SOULIER TYPE |
231200 |
|
500 |
| HADH (3-@HYDROXYACYL-CoA
DEHYDROGENASE, HADSC, SCHAD) |
601609 |
3-@HYDROXYACYL-CoA
DEHYDROGENASE DEFICIENCY
»
HADH DEFICIENCY
» SCHAD
DEFICIENCY |
231530 |
|
1200 |
HAMP (HEPCIDIN
ANTIMICROBIAL PEPTIDE)
|
606464 |
HEMOCHROMATOSIS,
JUVENILE
» HEMOCHROMATOSIS,
TYPE 2, HFE2
» HEMOCHROMATOSIS
DUE TO DEFECT IN HEMOJUVELIN |
602390 |
|
600 |
| HEXB (HEXOSAMINIDASE
B) |
606873 |
SANDHOFF
DISEASE
» GM2-GANGLIOSIDOSIS,
TYPE 2
» HEXOSAMINIDASES
A AND B DEFICIENCY |
268800 |
|
1700 |
HLXB9 (HOMEOBOX
GENE HB9)
|
142994 |
CURRARINO
TRIAD
» SACRAL
AGENESIS SYNDROME
» SACRAL
AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE,
AND/OR TERATOMA, AND ANORECTAL MALFORMATION |
176450 |
|
700 |
| ICR1 |
608897 |
SILVER-RUSSELL
SYNDROME
» RUSSELL-SILVER
SYNDROME |
180860 |
Combined
testing of epimutation at ICR1 on chromosome 11p15 and UPD of
chromosome 7 |
400 |
KAL1 (ADHESION
MOLECULE-LIKE, X-LINKED, ANOSMIN 1)
|
308700 |
KALLMANN
SYNDROME, TYPE 1, KAL1
»
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA
» DYSPLASIA
OLFACTOGENITALIS OF DE MORSIER
» ANOSMIC
HYPOGONADISM |
308700 |
|
1600 |
KCNA1 (POTASSIUM
CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 1)
|
176260 |
EPISODIC
ATAXIA, TYPE 1, EA1
» EPISODIC
ATAXIA WITH MYOKYMIA
» ATAXIA,
EPISODIC, WITH MYOKYMIA
» PAROXYSMAL
ATAXIA WITH NEUROMYOTONIA, HEREDITARY
» MYOKYMIA
WITH PERIODIC ATAXIA
» MYOKYMIA
» CONTINUOUS
MUSCLE FIBER ACTIVITY, HEREDITARY
» ISAACS-MERTENS
SYNDROME |
160120 |
|
700 |
MAP2K1 (MITOGEN-ACTIVATED
PROTEIN KINASE KINASE 1, MKK1, MAPKK1, MAPK/ERK KINASE 1, MEK1)
|
176872 |
CARDIOFACIOCUTANEOUS
SYNDROME, CFC
» CFC
SYNDROME |
115150 |
|
1900 |
MAP2K2 (MITOGEN-ACTIVATED
PROTEIN KINASE KINASE 2, MAPKK2, MAPK/ERK KINASE 2, MEK2)
|
601263 |
CARDIOFACIOCUTANEOUS
SYNDROME, CFC
» CFC
SYNDROME |
115150 |
|
1900 |
MBL (LECTIN,
MANNOSE-BINDING, SOLUBLE, 2, MANNAN-BINDING PROTEIN,
COLLECTIN 1)
|
154545 |
MANNOSE-BINDING
PROTEIN DEFICIENCY |
154545 |
|
700 |
| PLA2G (PHOSPHOLIPASE
A2, GROUP 6) |
603604 |
KARAK
SYNDROME |
608395 |
|
1650 |
| NEURODEGENERATION
WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED |
610217 |
|
1650 |
PNPO (PYRIDOXAMINE
5-PRIME-PHOSPHATE OXIDASE, PYRIDOXAMINE-PHOSPHATE OXIDASE)
|
603287 |
PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
» PNPO
DEFICIENCY
» EPILEPTIC
ENCEPHALOPATHY, NEONATAL, PNPO-RELATED
|
610090 |
|
800 |
POU1F1 (POU
DOMAIN, CLASS 1, TRANSCRIPTION FACTOR 1, GROWTH HORMONE FACTOR
1, PIT1)
|
173110 |
PITUITARY
HORMONE DEFICIENCY, COMBINED |
173110 |
|
800 |
| PRF1 (PERFORIN
1, PORE-FORMING PROTEIN) |
170280 |
HEMOPHAGOCYTIC
LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 2, FHL2 |
603553 |
See
also PRF1, STX11, UNC13D |
Upon Request |
| PRF1,
STX11, UNC13D |
|
HEMOPHAGOCYTIC
LYMPHOHISTIOCYTOSIS, FAMILIAL |
|
|
1800 |
PRKCG (PROTEIN
KINASE C, GAMMA, PKCC)
|
176980 |
SPINOCEREBELLAR
ATAXIA 14, SCA14 |
605361 |
|
2000 |
PROP1 (PROPHET
OF PIT1, PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR)
|
601538 |
PITUITARY
DWARFISM 3
» PANHYPOPITUITARISM
» ATELIOTIC
DWARFISM WITH HYPOGONADISM
» HANHART
DWARFISM
PITUITARY HORMONE DEFICIENCY, COMBINED
» PITUITARY
HORMONE DEFICIENCY, COMBINED WITH RIGID CERVICAL SPINE
» PITUITARY
HORMONE DEFICIENCY, COMBINED |
262600 |
|
700 |
| PSTPIP1 (PROLINE/
SERINE/ THREONINE PHOSPHATASE-INTERACTING PROTEIN 1) |
606347 |
PYOGENIC
STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
»
PAPA SYNDROME
» FAMILIAL
RECURRENT ARTHRITIS |
604416 |
|
1600 |
SALL1 (SAL-LIKE
1)
|
602218 |
TOWNES-BROCKS
SYNDROME
» RENAL-EAR-ANAL-RADIAL
SYNDROME
» REAR
SYNDROME
» ANUS,
IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES
» DEAFNESS,
SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES
» TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE
SYNDROME |
107480 |
|
1600 |
SETX (SENATAXIN)
|
608465 |
AMYOTROPHIC
LATERAL SCLEROSIS 4, JUVENILE, ALS4
» NEURONOPATHY,
DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES |
602433 |
|
2900 |
SPINOCEREBELLAR
ATAXIA (AUTOSOMAL RECESSIVE), 1
» ATAXIA-OCULOMOTOR
APRAXIA 2 |
606002 |
|
2900 |
| SLC12A3 (SOLUTE
CARRIER FAMILY 12, SODIUM/CHLORIDE TRANSPORTER, MEMBER 3, THIAZIDE-SENSITIVE
NA-CL COTRANSPORTER) |
600968 |
GITELMAN
SYNDROME
» HYPOMAGNESEMIA-HYPOKALEMIA,
PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
» POTASSIUM
AND MAGNESIUM DEPLETION |
263800 |
|
150 |
SMARCAL1 (SWI/SNF-RELATED,
MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY
A-LIKE PROTEIN 1)
|
606622 |
IMMUNOOSSEOUS
DYSPLASIA, SCHIMKE TYPE |
242900 |
|
2000 |
| SMC1A (STRUCTURAL
MAINTENANCE OF CHROMOSOMES 1A, SMC1L1, SMC1) |
300040 |
CORNELIA
DE LANGE SYNDROME (X-LINKED) |
300590 |
|
1300 |
SOS1 (SON
OF SEVENLESS, DROSOPHILA, HOMOLOG 1)
|
308700 |
NOONAN
SYNDROME |
. |
|
1200 |
| FIBROMATOSIS,
GINGIVAL, TYPE 1 |
135300 |
|
1200 |
| SPTLC1 (SERINE
PALMITOYLTRANSFERASE, LONG-CHAIN BASE SUBUNIT 1) |
605712 |
NEUROPATHY,
HEREDITARY SENSORY AND AUTONOMIC, TYPE 1
» HSAN1
» NEUROPATHY,
HEREDITARY SENSORY RADICULAR (AUTOSOMAL DOMINANT) |
162400 |
Exons
5-6 |
380 |
STX11 (SYNTAXIN
11)
|
605014 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 4,
FHL4 |
603552 |
See
also PRF1, STX11, UNC13D |
Upon Request |
TRIM37 (TRIPARTITE
MOTIF-CONTAINING PROTEIN 37)
|
605073 |
MULIBREY
NANISM
» MUSCLE-LIVER-BRAIN-EYE NANISM
» PERHEENTUPA SYNDROME |
253250 |
|
150 |
TTN (TITIN,
CONNECTIN)
|
188840 |
CARDIOMYOPATHY,
FAMILIAL HYPERTROPHIC, 9 |
188840 |
Exons
212-213 |
380 |
| CARDIOMYOPATHY,
DILATED, 1G, CMD1G |
604145 |
Exons
212-213 |
380 |
TIBIAL
MUSCULAR DYSTROPHY, TARDIVE
» UDD
MYOPATHY
|
600334 |
Exons
212-213 |
380 |
TTPA (TOCOPHEROL
TRANSFER PROTEIN, ALPHA, TTP1)
|
600415 |
VITAMIN
E, FAMILIAL ISOLATED DEFICIENCY OF
» ATAXIA,
FRIEDREICH-LIKE, WITH SELECTIVE VITAMIN E DEFICIENCY
»
FRIEDREICH-LIKE ATAXIA |
277460 |
|
700 |
| ATAXIA
AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY |
. |
|
700 |
UNC13D (UNC13, C. ELEGANS, HOMOLOG OF, D, MUNC13-4)
|
608897 |
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 3,
FHL3 |
608898 |
See
also PRF1, STX11, UNC13D |
Upon Request |
