Additional Molecular Tests

Gene Gene OMIM Disease Disease OMIM Comment Price in Euro POR (CYTOCHROME P450 OXIDOREDUCTASE) 124015 POR DEFICIENCY » CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY » ANTLEY-BIXLER SYNDROME-LIKE PHENOTYPE WITH DISORDERED STEROIDOGENESIS » ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY 201750   1500 NR5A1 (NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; STEROIDOGENIC FACTOR 1, SF1) 184757 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH OR WITHOUT ADRENAL FAILURE » SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE » DISORDER OF SEX DEVELOPMENT, 46, XY, DSD 612965   750 PREMATURE OVARIAN FAILURE 7, POF7 612964    750 ATXN7 (ATAXIN 7) 607640 SPINOCEREBELLAR ATAXIA 7, SCA7 » OLIVOPONTOCEREBELLAR ATROPHY 3, OPCA3 » OPCA WITH RETINAL DEGENERATION » CEREBELLAR ATAXIA, TYPE 2, ADCA2 (AUTOSOMAL DOMINANT) 164500   250 SMC3 (STRUCTURAL MAINTENANCE OF CHROMOSOMES 3) 606062 CORNELIA DE LANGE SYNDROME, TYPE 3, CDLS3 610759   1200 TPM3 (TROPOMYOSIN 3, ALPHA-TROPOMYOSIN, SLOW SKELETAL) 191030 NEMALINE MYOPATHY 1, NEM1 » CAP MYOPATHY, TPM3-RELATED 609284   1700 MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 255310   1700  NR2E3 (NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3, PHOTORECEPTOR-SPECIFIC NUCLEAR RECEPTOR) 604485 ENHANCED S-CONE SYNDROME » GOLDMANN-FAVRE SYNDROME » RETINOSCHISIS WITH EARLY HEMERALOPIA » FAVRE HYALOIDEORETINAL DEGENERATION 268100   700 RETINITIS PIGMENTOSA 37, RP37 205100   700 ALS2 (ALSIN) 606352 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, ALS2 611131   1400 PRIMARY LATERAL SCLEROSIS, JUVENILE 606353   1400 SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING 607255   1400