Listă analize medicale - categoria Metabolism
5-metiltetrahidrofolat (5MTHF) in LCR* | 330 | 323.4 | 3025 |
Acid phytanic (PHYT)* | 395 | 387.1 | 2519 |
Acid pipecolic (PIPS)* | 374 | 366.52 | 2665 |
Acid pristanic (PRIS)* | 451 | 441.98 | 3017 |
Acid sialic (SIAL)* | 167 | 161.99 | 3638 |
Acilcarnitina in urina (CARNU)* | 550 | 539 | 3392 |
Acizi biliari in materii fecale (GALST)* | 127 | 123.19 | 3074 |
Acizi biliari** | 127 | 123.19 | 1758 |
Acizi grasi HS-Omega-3-index (HSO3I)* | 506 | 495.88 | 3432 |
Acizi grasi liberi (FFS)* | 110 | 106.7 | 1618 |
Acizi grasi Omega 3/6 (OMBUC)* | 374 | 366.52 | 4534 |
Acizi grasi Omega 3/6/7/9 (OMEGA)* | 715 | 700.7 | 2331 |
Acizi grasi Omega-3 - Acid alfa-Linolenic (ALA), Acid Eicosapentaenoic (EPA), Acid Docosahexaenoic (DHA) (OMEGA3)* | 295 | 289.1 | 5369 |
Acizi grasi Omega-6 - Acid Linolenic, Acid gama-Linolenic, Acid bishomo-Linolenic, Acid Arahidonic (OMEGA6)* | 205 | 200.9 | 2329 |
Acizi grasi Omega-7/9 - Acid Oleic, Acid Nervonic, Acid Palmitoleic (OMEGA7)* | 295 | 289.1 | 5765 |
Acizi organici in urina (ORGSU)* | 950 | 931 | 5560 |
Acizi si saruri biliare - diferentiere in ser* | 528 | 517.44 | 5356 |
Alfa Glucozidaza 1 (AGLU1)* | 248 | 243.04 | 3559 |
Alfa-Galactozidaza in ser (AGAL)* | 138 | 133.86 | 3444 |
Alfa-Iduronidaza - MPZ I Hurler-Scheie (AIDU)* | 220 | 215.6 | 2316 |
Amine biogene in LCR (acid homovanilic, acid 5-hidroxiindolacetic, 3-orto-metildopa, L-Dopa, 5-hidroxitriptofan, raport HVA) (BIOL)* | 1073 | 1062.27 | 4988 |
Aminoacizi din picatura de sange pe hartie-filtru (AMSFI)* | 440 | 431.2 | 3362 |
Aminoacizi screening in LCR (AMINOL) * | 694 | 680.12 | 4713 |
Aminoacizi screening in plasma (AMSPP)* | 440 | 431.2 | 1589 |
Aminoacizi screening in urina (AMINOU)* | 215 | 210.7 | 1836 |
Anticorpi anti-transportor de zinc 8 si 8C (ZNT8)* | 198 | 192.06 | 4398 |
Anticorpi IgA anti-receptor de insulina (RIA) (INSRAR) * | 99 | 95.04 | 3695 |
Anticorpi IgG anti-insulina umana (INSA) | 230 | 223.1 | 5792 |
Anticorpi IgG anti-receptor de insulina (RIA) (INSRGR)* | 100 | 97 | 3699 |
Apolipoproteina E (APOLE)* | 94 | 90.24 | 2838 |
Arilsulfataza A serica (ARSUA)* | 160 | 155.2 | 1387 |
Arilsulfataza A urinara (ARSUAU)* | 116 | 112.52 | 1456 |
Arilsulfataza B - MPZ VI Maroteaux-Lamy (ARSUB)* | 220 | 215.6 | 2318 |
Beta Galactocerebrozidaza (BGALCB)* | 220 | 215.6 | 2999 |
Beta Glucuronidaza in materii fecale* | 182 | 176.54 | 5230 |
Beta Glucuronidaza, inclusiv Beta Galactozidaza* | 385 | 377.3 | 2257 |
Beta-hidroxibutirat (acid beta-hidroxibutiric) (HBUT) | 150 | 145.5 | 5832 |
Biotinidaza - activitate (BIOTA)* | 325 | 318.5 | 5368 |
Biotinidaza din picatura de sange pe hartie-filtru (BIOT)* | 165 | 160.05 | 2373 |
Boala Danon - proteina membranara 2 asociata lizozomilor (LAMP2) * | 2310 | 2286.9 | 4885 |
Carnitina (L-Carnitina) Total/Free in plasma* | 418 | 409.64 | 5324 |
Carnitina libera in urina (FCARNU) * | 440 | 431.2 | 3067 |
CDG - testarea trisialotransferinei tratate cu sialidaza* | 396 | 388.08 | 4758 |
Cistina urinara (CYSU24)* | 176 | 170.72 | 2618 |
Corpi cetonici - cetone totale, acetoacetat, butirat (ACAC,GKETO,BUTY)* | 314 | 307.72 | 4656 |
Deficitul de VLCAD - acizi grasi cu lant foarte lung (VLCFA) (ALD)* | 462 | 452.76 | 2646 |
Diagnostic CLN (Lipofuscinoza ceroida neuronala) infantila-tardiva si timpurie - dozare enzimatica palmitoil-protein-tioesteraza si tripeptidil-peptidaza (BUCNCL)* | 715 | 700.7 | 3655 |
Diagnostic Glicogenoza - Boli cu stocare de glicogen in ficat (GSDPRL)* | 6050 | 5989.5 | 3650 |
Diagnostic Glicogenoza - Boli cu stocare de glicogen in ficat TIP I (GSDT1)* | 963 | 943.74 | 3653 |
Diagnosticarea sindromului CDG (tulburare congenitala a glicozilarii) (CDGS)* | 458 | 448.84 | 5748 |
Dihidropteridin-reductaza - activitatea enzimatica (DHPRA) | 200 | 194 | 5786 |
Dimetilarginina asimetrica (ADMA)* | 462 | 452.76 | 5366 |
Electroforeza MPS in urina (MPS)* | 290 | 284.2 | 2258 |
Fenilalanina in sange (PHENY)* | 127 | 123.19 | 1721 |
FGF 23 (factor de crestere fibroblastica 23) (FGF)* | 281 | 275.38 | 2939 |
Galactokinaza - galactozemie (GALK)* | 743 | 728.14 | 4449 |
Galactoza in sange (GAL)* | 95 | 91.2 | 1994 |
Galactoza in urina (GALU)* | 94 | 90.24 | 2278 |
Galactozo - UDP - epimeraza - galactozemie (UDPGE)* | 1100 | 1089 | 4451 |
Galactozo-1-fosfat eritrocitar (GAL1P)* | 110 | 106.7 | 2084 |
Galactozo-1-fosfat uridiltransferaza - galactozemie (G1PUT)* | 743 | 728.14 | 4448 |
Glicina in LCR (GLYCL)* | 177 | 171.69 | 3241 |
Glicina index ser/LCR si screening complet al aminoacizilor ser/LCR (EXVERS)* | 1155 | 1143.45 | 3286 |
Glicozaminoglicani (GAG)* | 133 | 129.01 | 3037 |
Glucozo-6-Fosfat Dehidrogenaza in sange capilar in spot (G6PDN)* | 99 | 95.04 | 2534 |
Guanidinoacetat in sange* | 462 | 452.76 | 3245 |
Guanidinoacetat in urina (GUAUK)* | 462 | 452.76 | 3246 |
Hexozaminidaza A, B (HEXAB)* | 220 | 215.6 | 1973 |
Homocisteina ** | 143 | 138.71 | 1339 |
Homocisteina in LCR (HCYSL)* | 204 | 199.92 | 2761 |
Iduronidat-2-sulfataza (IDU2S)* | 220 | 215.6 | 4666 |
Metionina in ser (MET)* | 193 | 187.21 | 3173 |
Metionina in urina (METU)* | 193 | 187.21 | 3174 |
N-Acetil-Glucozaminidaza - MPZ III San Filippo tip B (NAGU)* | 110 | 106.7 | 2317 |
Neurotransmitatori in LCR: neopterina, biopterina (NEUROL)* | 319 | 312.62 | 5206 |
Newborn screening EXTINS (screening metabolic, electroforeza hemoglobinei, tripsina imunoreactiva, G6PDH)(NEOBU5)* | 670 | 656.6 | 2544 |
Newborn screening EXTRA (screening metabolic, tripsina imunoreactiva)(NEOBUC)* | 580 | 568.4 | 2129 |
Newborn screening EXTRA-PLUS (screening metabolic, electroforeza hemoglobinei, tripsina imunoreactiva)(NEOBU3)* | 650 | 637 | 2126 |
Newborn screening PLUS (screening metabolic, electroforeza hemoglobinei)(NEOBU2)* | 520 | 509.6 | 2105 |
Newborn screening STANDARD (screening metabolic)(NEO)* | 420 | 411.6 | 1645 |
NFL in LCR (Neurofilament Light Chain - Lant usor de neurofilament) (NFLL)* | 248 | 243.04 | 5352 |
NFL in ser (Neurofilament Light Chain - Lant usor de neurofilament) (NFL)* | 248 | 243.04 | 5351 |
N-telopeptid in urina (NTXUK)* | 165 | 160.05 | 2087 |
Oligozaharide in urina (OSACU)* | 138 | 133.86 | 2073 |
Ornitina (ORNI)* | 193 | 187.21 | 3558 |
Oxid nitric* | 285 | 279.3 | 5754 |
Pachet screening boli metabolice rare (Beta Galactozidaza, Sfingomielinaza, Glucocerebrozidaza)* | 795 | 779.1 | 5654 |
Panel boli de depozit lizozomal (STODIS)* | 1320 | 1306.8 | 3137 |
Panel boli neurodegenerative lizozomale (hexozaminidaza totala, hexozaminidaza A, arilsulfataza A, beta-galactocerebrozidaza, beta-glucozidaza, palmitoil-protein-thioesteraza, tripeptidil-peptidaza) (NEUDIS)* | 1925 | 1905.75 | 3060 |
Plasmalogen in sange (PLASL)* | 550 | 539 | 3652 |
Pterine in picatura de sange pe hartie-filtru: neopterina, biopterina si raport (PTTHD)* | 385 | 377.3 | 4435 |
Pterine in urina: neopterina, biopterina si raport (PTUHD)* | 385 | 377.3 | 4431 |
Purine/Pirimidine in urina (PUPYU)* | 413 | 404.74 | 3134 |
Serina in LCR (SERIL)* | 177 | 171.69 | 3247 |
Succinil acetona in urina (SUCACU) | 475 | 460.75 | 5787 |
Sulf in urina (SU)* | 479 | 469.42 | 5495 |
Sulfatidaza in urina (SULFU)* | 413 | 404.74 | 3135 |
Sulfit test (SUU)* | 33 | 31.35 | 3226 |
Test de nutritie avansat* | 1500 | 1485 | 5572 |
Tirozina (TYRO)* | 176 | 170.72 | 2114 |
Trimetilaminurie (Sindromul mirosului de peste) (TMAU)* | 1430 | 1415.7 | 3692 |
Tripsina (TRYP)* | 201 | 196.98 | 1269 |
Tripsina imunoreactiva (TRYPN)* | 231 | 226.38 | 1859 |