| عنوان تست | کد تست | جزییات |
|---|---|---|
| Alzheimer disease | 3235 | مشاهده |
| Becker and. Duchenne Muscular Dystrophies | Neu3147 | مشاهده |
| Familial Amyloidotic Polyneuropathy | 32341 | مشاهده |
| Friedreich Ataxia | 32343 | مشاهده |
| Frontotemporal Dementia | 32344 | مشاهده |
| Frontotemporal Dementia with Parkinsonism | 32345 | مشاهده |
| Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia | 32361 | مشاهده |
| Hyperkalemic Periodic Paralysis | 32358 | مشاهده |
| Infant Severe Myoclonic Epilepsy | 32362 | مشاهده |
| Oculocerebrorenal Syndrome (Lowe Syndrome) | 32392 | مشاهده |
| Menkes Disease | 32373 | مشاهده |
| Myotonia Congenita AD, Becker & Thomsen diseases | 32383 | مشاهده |
| Myotonic Dystrophy type 2 | 32384 | مشاهده |
| Nemaline Myopathy | 32385 | مشاهده |
| Neurofibromatosis type I | Neu31528 | مشاهده |
| Neurofibromatosis type II | Neu31529 | مشاهده |
| Oculopharyngeal Muscular Dystrophy | 32393 | مشاهده |
| Parkinson disease | 32398 | مشاهده |
| Spastic Paraplegia | 323109 | مشاهده |
| Spinal Muscular Atrophy | Neu31751 | مشاهده |
| Spinocerebellar Ataxias | 323111 | مشاهده |
| Infantile-onset spinocerebellar ataxia | 32364 | مشاهده |
| Thrombophilia. markers | Neu31533 | مشاهده |
| Tuberous Sclerosis | 323115 | مشاهده |
| Alstrom -Syndrome | Neu3143 | مشاهده |
| Agnathia-Otocephaly | Neu 3222 | مشاهده |
| Aicardi-Goutières Syndrome | 3233 | مشاهده |
| Familial Amyloidosis (hATTR) | 32340 | مشاهده |
| Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) | 3236 | مشاهده |
| Autosomal Recessive Spinocerebellar Ataxia Type 4 (SCAR4) | 3239 | مشاهده |
| Episodic Ataxia | 32338 | مشاهده |
| Ataxia with Oculomotor Apraxia | Neu3204 | مشاهده |
| Autism Spectrum Disorders (ASD) | 3238 | مشاهده |
| Intellectual Disability, Epilepsy, and Autism (IDEA) | 32365 | مشاهده |
| Opitz G.BBB Syndrome | 32394 | مشاهده |
| Brain Malformation | 32311 | مشاهده |
| Brown-Vialetto-van Laere Syndrome and Fazio-Londe Disease | Neu3149 | مشاهده |
| CADASIL1 via the NOTCH3 Gene | 32314 | مشاهده |
| CADASIL and CARASIL | 32313 | مشاهده |
| Cerebral Small Vessel Disease | 32315 | مشاهده |
| Neuronal Ceroid Lipofuscinoses (Batten Disease) | 32391 | مشاهده |
| Charcot-Marie-Tooth (CMT) - Axonal Neuropathy | 32316 | مشاهده |
| Charcot-Marie-Tooth (CMT) – Comprehensive | 32317 | مشاهده |
| Charcot-Marie-Tooth Disease and Distal Motor Neuropathy via the GBF1 Gene | 32318 | مشاهده |
| Chromosomal Instability Syndromes | Neu3118 | مشاهده |
| Congenital Central Hypoventilation Syndrome (CCHS) | Neu3196 | مشاهده |
| Congenital Myopathy | 32328 | مشاهده |
| Congenital Myopathy via the HACD1 | 32329 | مشاهده |
| Disorders of Copper Metabolism | 32332 | مشاهده |
| Dementia | 32330 | مشاهده |
| Developmental Delay | 32331 | مشاهده |
| Distal Myopathy | 32334 | مشاهده |
| Dystonia | 32335 | مشاهده |
| Infantile Parkinsonism-Dystonia | 32363 | مشاهده |
| Comprehensive Epilepsy and Seizure | 32324 | مشاهده |
| Early Infantile Epileptic Encephalopathy | 32337 | مشاهده |
| Galloway-Mowat Syndrome (GAMOS) | Neu32117 | مشاهده |
| Glutaric Acidemia Type I via the GCDH Gene | Neu31429 | مشاهده |
| Glutaric .Acidemia Type II | Neu31430 | مشاهده |
| GLI3-Related Disorders via the GLI3 Gene | Neu32218 | مشاهده |
| Familial Hemiplegic Migraine and Alternating Hemiplegia of Childhood | 32342 | مشاهده |
| Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine | Neu31752 | مشاهده |
| Hirschsprung Disease (Non-syndromic) | Neu31631 | مشاهده |
| Holoprosencephaly, Autosomal Dominant, Nonsyndromic | 32354 | مشاهده |
| Hydrocephalus | 32355 | مشاهده |
| Hyperammonemia | Neu31444 | مشاهده |
| Ornithine .Transcarbamylase Deficiency via the OTC Gene | Neu31466 | مشاهده |
| Hypoglycemia | Neu31448 | مشاهده |
| X-Linked Intellectual Disability | 323120 | مشاهده |
| Kallmann Syndrome (KS) | 32366 | مشاهده |
| Leukodystrophy and Leukoencephalopathy | 32368 | مشاهده |
| Leukodystrophy and Leukoencephalopathy, Adult Onset | 32369 | مشاهده |
| Leukoencephalopathy with Vanishing White Matter and Ovarioleukodystrophy | 32370 | مشاهده |
| Lissencephaly | 32371 | مشاهده |
| Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene | Neu31435 | مشاهده |
| Lysosomal Storage Disorders | Neu31450 | مشاهده |
| Overgrowth and Macrocephaly Syndromes | 32397 | مشاهده |
| Methylmalonic. Acidemia | Neu31457 | مشاهده |
| Primary Microcephaly, Autosomal Recessive | 323104 | مشاهده |
| Chronic Progressive External Ophthalmoplegia (CPEO.PEO) | Neu3209 | مشاهده |
| Coenzyme Q10 Ubiquinone Deficiency | 32322 | مشاهده |
| Leigh and Leigh-Like Syndrome (Nuclear Genes Only) | 32367 | مشاهده |
| Mitochondrial Complex I Deficiency (Nuclear Genes) | 32375 | مشاهده |
| Mitochondrial Complex II Deficiency | 32376 | مشاهده |
| Mitochondrial Complex III Deficiency (Nuclear Genes) | 32377 | مشاهده |
| Mitochondrial Complex IV Deficiency (Nuclear Genes) | 32378 | مشاهده |
| Mitochondrial Complex V Deficiency (Nuclear Genes) | 32379 | مشاهده |
| Mitochondrial Disorders (Nuclear Genes Only) | 32380 | مشاهده |
| Mitochondrial Genome Maintenance-Integrity Nuclear Genes | 32381 | مشاهده |
| Mitochondrial Trifunctional Protein Deficiency & Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency | 32091 | مشاهده |
| Comprehensive Movement Disorders | 32325 | مشاهده |
| Idiopathic Basal Ganglia Calcification | 32360 | مشاهده |
| Dystroglycan-Related Congenital Muscular Dystrophy panel | 32336 | مشاهده |
| Type VI-Related Collagenopathy | 323116 | مشاهده |
| Neurodegeneration with Brain Iron Accumulation and Infantile Neuroaxonal Dystrophy | 32386 | مشاهده |
| Neurofibromatosis Type 1 and Legius Syndrome | Neu32127 | مشاهده |
| Schwannomatosis | Neu31159 | مشاهده |
| Comprehensive Neuropathy | 32326 | مشاهده |
| Distal Hereditary Motor Neuropathy | 32333 | مشاهده |
| Episodic Pain Syndrome | 32339 | مشاهده |
| Hereditary Sensory and Autonomic Neuropathy | 32351 | مشاهده |
| Hydroxyglutaric Aciduria | 32356 | مشاهده |
| Organic Aciduria | Neu31465 | مشاهده |
| Polycystic. Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy | Neu32233 | مشاهده |
| Parkinson Disease and Parkinsonism | 32399 | مشاهده |
| Peroxisomal Disorders | Neu31467 | مشاهده |
| Pontocerebellar Hypoplasia | 323102 | مشاهده |
| Acute.Neurovisceral Porphyria | 3231 | مشاهده |
| Chronic.Cutaneous Porphyria | 32321 | مشاهده |
| Porphyria | 323103 | مشاهده |
| Noonan Spectrum Disorders.RASopathies | Neu31742 | مشاهده |
| Rett Syndrome, Angelman Syndrome and Variant Syndromes | 323106 | مشاهده |
| Septo-optic Dysplasia Spectrum | Neu32034 | مشاهده |
| Complex Hereditary Spastic Paraplegia | 32323 | مشاهده |
| Hereditary Spastic Paraplegia Comprehensive | 32352 | مشاهده |
| Pure Hereditary Spastic Paraplegia | 323105 | مشاهده |
| Stuttering | 323113 | مشاهده |
| Warburg _Micro Syndrome | Neu32039 | مشاهده |
| Wolfram. Syndrome | Neu32041 | مشاهده |
| WFS1-Related Disorders via the WFS1 Gene | Neu32040 | مشاهده |
ساخته شده در آزمایشگاه جهش لب