Pediatrics
| عنوان تست | کد تست | جزییات |
|---|---|---|
| Achondroplasia | 3141 | مشاهده |
| Alpha-1 Antitrypsin | P3142 | مشاهده |
| Alstrom Syndrome | P3143 | مشاهده |
| Angelman Syndrome | 3144 | مشاهده |
| Cohen Syndrome | 31416 | مشاهده |
| Becker & Duchenne Muscular Dystrophies | 3147 | مشاهده |
| Charcot-Marie-Tooth disease | P31414 | مشاهده |
| 6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency via the PTS Gene | 3149 | مشاهده |
| Argininemia via the ARG1 Gene | 3145 | مشاهده |
| Arginosuccinate Lyase Deficiency via the ASL Gene | 3146 | مشاهده |
| Carbamoylphosphate Synthetase I Deficiency via the CPS1 Gene | 31411 | مشاهده |
| Citrullinemia, Type I via ASS1 Gene | 31415 | مشاهده |
| Dihydrolipoamide Dehydrogenase Deficiency via the DLD Gene | 31422 | مشاهده |
| Dihydropteridine Reductase (DHPR) Deficiency via the QDPR Gene | 31423 | مشاهده |
| Glycine N-Methyltransferase Deficiency via the GNMT Gene | 31434 | مشاهده |
| Gyrate Atrophy of Choroid and Retina via the OAT Gene | 31436 | مشاهده |
| Homocystinuria | 31440 | مشاهده |
| Homocystinuria via the CBS Gene | 31441 | مشاهده |
| Homocystinuria, cblE Type, via the MTRR Gene | 31442 | مشاهده |
| Hydroxyprolinemia via the PRODH2 Gene | 31443 | مشاهده |
| Hyperammonemia | P31444 | مشاهده |
| Hyperammonemia via the NAGS Gene | 31445 | مشاهده |
| Hypermethioninemia | 31446 | مشاهده |
| Hyperphenylalaninemia via the DNAJC12 Gene | 31447 | مشاهده |
| Maple Syrup Urine Disease Type IA via the BCKDHA | 31452 | مشاهده |
| Maple Syrup Urine Disease Type IB via the BCKDHB | 31453 | مشاهده |
| Maple Syrup Urine Disease Type II via the DBT Gene | 31454 | مشاهده |
| Methionine Adenosyltransferase I.III Deficiency via the MAT1A Gene | 31456 | مشاهده |
| Methylmalonic Aciduria and Homocystinuria | 31458 | مشاهده |
| Methylmalonic Aciduria and Homocystinuria, cblC type, via the MMACHC Gene | 31459 | مشاهده |
| Methylmalonic Aciduria and Homocystinuria, cblF type, via the LMBRD1 Gene | 31460 | مشاهده |
| Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene | 31461 | مشاهده |
| Ornithine Transcarbamylase Deficiency via the OTC | 31466 | مشاهده |
| Phenylalanine Hydroxylase Deficiency via the PAH Gene | 31468 | مشاهده |
| Pyruvate Carboxylase Deficiency via the PC Gene | 31470 | مشاهده |
| S-Adenosylhomocysteine Hydrolase Deficiency via the AHCY Gene | 31471 | مشاهده |
| Tyrosinemia | 31476 | مشاهده |
| Tyrosinemia, Type I via the FAH Gene | 31478 | مشاهده |
| Tyrosinemia, Type II via the TAT Gene | 31479 | مشاهده |
| Tyrosinemia Type III and Hawkinsinuria via the HPD Gene | 31477 | مشاهده |
| Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only) | 31418 | مشاهده |
| Disorders of Folate Metabolism and Transport | 31425 | مشاهده |
| Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1.TTF1 Gene | 31419 | مشاهده |
| Congenital Hypothyroidism and Thyroid Hormone Resistance | 31420 | مشاهده |
| Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A3 Gene | 3149 | مشاهده |
| Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene | 31412 | مشاهده |
| Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene | P31413 | مشاهده |
| Disorders of Fatty Acid Oxidation (FAOD) | 31424 | مشاهده |
| Glutaric Acidemia Type II via the ETFA Gene | P31432 | مشاهده |
| Glutaric Acidemia Type II via the ETFB Gene | P31433 | مشاهده |
| Glutaric Acidemia Type II via the ETFDH Gene | P31431 | مشاهده |
| Medium Chain Acyl-CoA Dehydrogenase Deficiency via the ACADM Gene | P31455 | مشاهده |
| Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS | 31473 | مشاهده |
| Hypoglycemia - Expanded | 31448 | مشاهده |
| Severe Combined Immunodeficiency (SCID) | 31472 | مشاهده |
| Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene | P31435 | مشاهده |
| β-Ketothiolase Deficiency via the ACAT1 Gene | 31480 | مشاهده |
| 3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene | 31481 | مشاهده |
| 3-Methylcrotonyl-CoA Carboxylase Deficiency | 31482 | مشاهده |
| 3-Methylglutaconic Aciduria Type I via the AUH Gene | 31483 | مشاهده |
| Biotinidase Deficiency via the BTD Gene | 3148 | مشاهده |
| Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine | 31426 | مشاهده |
| Elevated Levels of C5-hydroxyacylcarnitine (C5-OH) | 31427 | مشاهده |
| Glutaric Acidemia Type I via the GCDH Gene | P31429 | مشاهده |
| Glutaric Acidemia Type II | P31430 | مشاهده |
| HCFC1-Related Disorders via the HCFC1 Gene | 31437 | مشاهده |
| Holocarboxylase Synthetase Deficiency via the HLCS Gene | 31439 | مشاهده |
| Isovaleric Acidemia via the IVD Gene | 31449 | مشاهده |
| Malonyl-CoA Decarboxylase Deficiency via the MLYCD Gene | 31451 | مشاهده |
| Methylmalonic Acidemia | P31457 | مشاهده |
| Organic Aciduria | P31465 | مشاهده |
| Comprehensive Congenital Heart Disease | p31417 | مشاهده |
| Hereditary Hearing Loss and Deafness | 31438 | مشاهده |
| Neonatal Respiratory Distress | 31463 | مشاهده |
| Primary Ciliary Dyskinesia (PCD).Immotile Cilia Syndrome and Cystic Fibrosis | P31469 | مشاهده |
| Peroxisomal Disorders | P31467 | مشاهده |
| Cystic_ Fibrosis | Ne31421 | مشاهده |
| Lysosomal Storage Disorders | Neu31450 | مشاهده |
| Non-syndromic Congenital Heart Disease | C31464 | مشاهده |
| Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3.Hydroxyacyl CoA Dehydrogenase Deficiency | C31462 | مشاهده |
| Smith.Lemli.Opitz Syndrome via the DHCR7 Gene | C31474 | مشاهده |
| Systemic Primary Carnitine Deficiency .via the SLC22A5 Gene | G31475 | مشاهده |
| Galactosemia. Panel | P31428 | مشاهده |