Additional Molecular Tests

Gene Gene OMIM Disease Disease OMIM Comment Price in Euro AVP (ARGININE VASOPRESSIN, VASOPRESSIN-NEUROPHYSIN 2, ANTIDIURETIC HORMONE, ADH) 192340 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL » DIABETES INSIPIDUS, PRIMARY CENTRAL 125700   250 DYM (DYMECLIN) 607461 DYGGVE-MELCHIOR-CLAUSEN DISEASE 223800   800 SMITH-MCCORT DYSPLASIA 607326   800 EFEMP1 (EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1, FIBULIN 3, FIBRILLIN-LIKE) 601548 DOYNE HONEYCOMB RETINAL DYSTROPHY » MALATTIA LEVENTINESE » DRUSEN, RADIAL (AUTOSOMAL DOMINANT) 126600 R345W Mutation 250 EGF (EPIDERMAL GROWTH FACTOR, UROGASTRONE) 131530 HYPOMAGNESEMIA, RENAL, TYPE 4 » HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC 611718   1400 GATA3 (GATA-BINDING PROTEIN 3) 131320 BARAKAT SYNDROME » HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE » HDR SYNDROME » NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM 146255   450 LDLRAP1 (LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1, LDLR ADAPTOR PROTEIN 1, ARH) 605747 HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH 603813   550 MAT1A (METHIONINE ADENOSYLTRANSFERASE I, ALPHA; S-ADENOSYLMETHIONINE SYNTHETASE 1, SAMS1) 610550 METHIONINE ADENOSYLTRANSFERASE DEFICIENCY » MAT DEFICIENCY » HYPERMETHIONINEMIA, ISOLATED PERSISTENT 250850   600 SOD1, TARDBP, ANG, ALS6   AMYOTROPHIC LATERAL SCLEROSIS   Panel of 4 Genes 1000 STX16 (SYNTAXIN 16) 603666 PSEUDOHYPOPARATHYROIDISM, TYPE 1B 603233 Whole Gene or Deletion-Duplication Whole Gene: 600 Deletion-Duplication: 350 TCF4 (TRANSCRIPTION FACTOR 4) 602272 PITT-HOPKINS SYNDROME » ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION » MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION 610954   250