Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
ABCA4 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 4, ABCR) |
601691 |
STARGARDT DISEASE, TYPE 1
» MACULAR DEGENERATION, JUVENILE
» FUNDUS FLAVIMACULATUS
» MACULAR DYSTROPHY WITH FLECKS, TYPE 1 |
248200 |
|
550 |
MACULAR DEGENERATION, AGE-RELATED, TYPE 2
» MACULOPATHY, AGE-RELATED, TYPE 2
» MACULAR DEGENERATION, SENILE |
153800 |
|
550 |
| RETINITIS PIGMENTOSA 19, RP19 |
601718 |
|
550 |
| CONE-ROD DYSTROPHY, TYPE 3, CORD3 |
604116 |
|
550 |
| ACTN4 (ACTININ, ALPHA-4) |
604638 |
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 1 |
603278 |
|
1250 |
| AMT (AMINOMETHYLTRANSFERASE, GLYCINE CLEAVAGE SYSTEM T PROTEIN) |
238310 |
NONKETOTIC HYPERGLYCINEMIA
» GLYCINE ENCEPHALOPATHY |
605899 |
|
300 |
| ASS (ARGININOSUCCINATE SYNTHETASE) |
603470 |
CITRULLINEMIA, CLASSIC
» CITRULLINEMIA, TYPE 1
» CITRULLINURIA
» ARGININOSUCCINATE SYNTHETASE DEFICIENCY |
215700 |
|
950 |
| BSND (BARTTIN) |
606412 |
BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS |
602522 |
|
300 |
| CD2AP (CD2-ASSOCIATED PROTEIN) |
604241 |
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 3 |
607832 |
|
1150 |
CHM (REP1, RAB ESCORT PROTEIN 1, RAB GERANYLGERANYL TRANSFERASE) |
300390 |
CHOROIDEREMIA
» TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE
» CHOROIDAL SCLEROSIS |
303100 |
|
550 |
| CLCNKA (CLCK1, CHLORIDE CHANNEL, KIDNEY, A) |
602024 |
BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS |
602522 |
|
1250 |
| CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) |
602023 |
BARTTER SYNDROME, TYPE 3
» BARTTER SYNDROME, CLASSIC
» BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA
|
607364 |
|
1250 |
BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS |
602522 |
|
1250 |
| CLDN19 (CLAUDIN 19) |
610036 |
HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
» MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA |
248190 |
|
375 |
CTNS (CYSTINOSIN) |
606272 |
CYSTINOSIS, NEPHROPATHIC |
219800 |
|
900 |
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE
» CYSTINOSIS, INTERMEDIATE |
219900 |
|
900 |
| CYSTINOSIS, ADULT NONNEPHROPATHIC |
219750 |
|
900 |
FOXE1 (FORKHEAD BOX E1, THYROID TRANSCRIPTION FACTOR 2, TTF2, TITF2) |
602617 |
BAMFORTH-LAZARUS SYNDROME
» HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE |
241850 |
|
600 |
| FXYD2 (FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 2, SODIUM-POTASSIUM-ATPase, GAMMA-1 POLYPEPTIDE) |
601814 |
HYPOMAGNESEMIA, TYPE 2, RENAL |
154020 |
|
375 |
GHR (GROWTH HORMONE RECEPTOR, GROWTH HORMONE-BINDING PROTEIN, GHBP) |
600946 |
PITUITARY DWARFISM 2
» GROWTH HORMONE INSENSITIVITY SYNDROME
» LARON SYNDROME
» GROWTH HORMONE RECEPTOR DEFICIENCY |
262500 |
|
1000 |
| SHORT STATURE, IDIOPATHIC (AUTOSOMAL) |
604271 |
|
1000 |
GLDC (GLYCINE DECARBOXYLASE, GLYCINE CLEAVAGE SYSTEM P PROTEIN) |
238300 |
NONKETOTIC HYPERGLYCINEMIA
» GLYCINE ENCEPHALOPATHY |
605899 |
|
750 |
HSD17B3 (17-@BETA HYDROXYSTEROID DEHYDROGENASE 3, ESTRADIOL 17-BETA-DEHYDROGENASE,EDH17B3) |
605573 |
17-@BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY
» PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
» POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY
» 17-@KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS |
264300 |
|
1000 |
| KCNJ1 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1, KIR1.1, ROMK1) |
600359 |
ANTENATAL BARTTER SYNDROME, TYPE 2
» HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 2
» HYPERPROSTAGLANDIN E SYNDROME, TYPE 2 |
241200 |
|
375 |
LHX3 (LIM HOMEOBOX GENE 3, LIM3) |
600577 |
PITUITARY DWARFISM 3
» PANHYPOPITUITARISM
» ATELIOTIC DWARFISM WITH HYPOGONADISM
» HANHART DWARFISM
» PITUITARY HORMONE DEFICIENCY, COMBINED
» PITUITARY HORMONE DEFICIENCY, COMBINED WITH RIGID CERVICAL SPINE, INCLUDED |
262600 |
|
600 |
LHX4 (LIM HOMEOBOX GENE 4, LHX4, LHX4/IGHG1 FUSION GENE) |
602146 |
SHORT STATURE, PITUITARY AND CEREBELLAR DEFECTS, AND SMALL SELLA TURCICA |
606606 |
|
600 |
| NPHP2 (NEPHROCYSTIN 2, INVS, INVERSIN) |
243305 |
NEPHRONOPHTHISIS, TYPE 2
» NEPHRONOPHTHISIS, INFANTILE |
602088 |
|
1150 |
| NPHP3 (NEPHROCYSTIN 3) |
608002 |
NEPHRONOPHTHISIS, TYPE 3
» NEPHRONOPHTHISIS, ADOLESCENT |
604387 |
|
1350 |
| NPHP4 (NEPHROCYSTIN 4, NEPHRORETININ) |
607215 |
NEPHRONOPHTHISIS, TYPE 4
» NEPHRONOPHTHISIS, JUVENILE |
606966 |
|
1350 |
| SENIOR-LOKEN SYNDROME 4 |
|
|
1350 |
PAX8 (PAIRED BOX GENE 8) |
167415 |
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, TYPE 2
» THYROID DYSGENESIS
» THYROID AGENESIS
» THYROID HYPOPLASIA
» THYROID, ECTOPIC
» HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
» HYPOTHYROIDISM, ATHYREOTIC
» THYROTROPIN RESISTANCE |
218700 |
|
1000 |
PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) |
179605 |
RETINITIS PIGMENTOSA 7, RP7 |
608133 |
|
550 |
FUNDUS ALBIPUNCTATUS
» RETINITIS PUNCTATA ALBESCENS |
136880 |
|
550 |
| MACULAR DYSTROPHY |
|
|
550 |
MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET
» FOVEOMACULAR DYSTROPHY, ADULT-ONSET |
608161 |
|
550 |
PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM
» MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY
» BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM |
169150 |
|
550 |
STARGARDT DISEASE, TYPE 1
» MACULAR DEGENERATION, JUVENILE
» FUNDUS FLAVIMACULATUS
» MACULAR DYSTROPHY WITH FLECKS, TYPE 1 |
248200 |
|
550 |
SLC12A1 (SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 1, SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 2, NKCC2) |
600839 |
BARTTER SYNDROME, ANTENATAL, TYPE 1
» HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 1
» HYPERPROSTAGLANDIN E SYNDROME 1 |
601678 |
|
1300 |
TBX19 (T-BOX 19, T-BOX FACTOR, PITUITARY) |
604614 |
ACTH DEFICIENCY |
201400 |
|
1000 |
THRB (THYROID HORMONE RECEPTOR, BETA, ERBA2) |
190160 |
THYROID HORMONE RESISTANCE, GENERALIZED (AUTOSOMAL DOMINANT)
» HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES |
188570 |
|
1000 |
THYROID HORMONE RESISTANCE, GENERALIZED (AUTOSOMAL RECESSIVE)
» THYROID HORMONE UNRESPONSIVENESS
» REFETOFF SYNDROME |
274300 |
|
1000 |
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY
» HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION |
145650 |
|
1000 |
| TRPC6 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6) |
603652 |
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 2 |
603965 |
|
800 |
| WNK1 (PROTEIN KINASE, LYSINE-DEFICIENT 1) |
605232 |
PSEUDOHYPOALDOSTERONISM, TYPE 2
» HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL
» HYPERTENSIVE HYPERKALEMIA, FAMILIAL
» GORDON HYPERKALEMIA-HYPERTENSION SYNDROME |
145260 |
|
1300 |
| WNK4 (PROTEIN KINASE, LYSINE-DEFICIENT 4) |
601844 |
PSEUDOHYPOALDOSTERONISM, TYPE 2
» HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL
» HYPERTENSIVE HYPERKALEMIA, FAMILIAL
» GORDON HYPERKALEMIA-HYPERTENSION SYNDROME |
145260 |
|
1250 |
