Muscular Disorders
| Disorder/Phenotype | Gene | MIM Gene | Type of Analysis |
|---|---|---|---|
| Congenital Fiber-Type Disproportion | ACTA1 | 102610 | Sequence analysis of the entire coding region |
| Nemaline Myopathy | ACTA1 | 102610 | Sequence analysis of the entire coding region |
| Myopathy Due To Myoadenylate Deaminase Deficiency | AMPD1 | 102770 | Sequence analysis of the entire coding region |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2, AD | BICD2 | 609797 | Sequence analysis of the entire coding region |
| Hypokalemic Periodic Paralysis, Type 1 | CACNA1S | 114208 | Sequence analysis of the entire coding region |
| Familial Hypokalaemic Periodic Paralysis | CACNA1S | 114208 | Detection of mutations R528H, R528G, R1239H and R1239G on the CACNA1S gene |
| Muscular Dystrophy, Limb-Girdle, Type 2A | CAPN3 | 114240 | Sequence analysis of the entire coding region |
| Muscular Dystrophy Limb Girdle Type 2A | CAPN3 | 114240 | Sequence analysis of the entire coding region |
| Myasthenic Syndrome Congenital | CHRNA1 | 100690 | Sequence analysis of the entire coding region |
| Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency | CHRNB1 | 100710 | Sequence analysis of the entire coding region |
| Myasthenic Syndrome Congenital | CHRND | 100720 | Sequence analysis of the entire coding region |
| Myotonia Congenita | CLCN1 | 118425 | Sequence analysis of the entire coding region |
| Duchenne Muscular Dystrophy | DMD | 300377 | Sequence analysis of the entire coding region |
| Duchenne Muscular Dystrophy | DMD | 300377 | Please contact us for more details |
| Steinert Myotonic Dystrophy (DM1) | DMPK | 605377 | Detection of the CTG expansion in the DMPK gene |
| Miotubular Myopathy, Autosomal Dominant | DNM2 | 602378 | Mutation screening in exons 8,11,15,16,17,18 and 21 of DNM2 gene |
| Amyotrophic Lateral Sclerosis 11 | FIG4 | 609390 | Sequence analysis of the entire coding region |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 | FKRP | 606596 | Sequence analysis of the entire coding region |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Mental Retardation), Type B, 5 | FKRP | 606596 | Sequence analysis of the entire coding region |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 | FKRP | 606596 | Sequence analysis of the entire coding region |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 | ISPD | 614631 | Sequence analysis of the entire coding region |
| Muscular Dystrophy, Congenital, Due To Partial LAMA2 Deficiency | LAMA2 | 156225 | Sequence analysis of the entire coding region |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive | LPIN1 | 605518 | Sequence analysis of the entire coding region |
| Oculopharyngeal Muscular Dystrophy | PABPN1 | 602279 | Repeat expansion analysis |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | POMGNT1 | 606822 | Sequence analysis of the entire coding region |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Mental Retardation), Type B, 3 | POMGNT1 | 606822 | Sequence analysis of the entire coding region |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 | POMGNT1 | 606822 | Sequence analysis of the entire coding region |
| Lipodystrophy, Congenital Generalized, Type 4 | PTRF | 613327 | Sequence analysis of the entire coding region |
| Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency | RAPSN | 601562 | Sequence analysis of the entire coding region |
| Pontocerebellar Hypoplasia, Type 6 | RARS2 | 611524 | Sequence analysis of the entire coding region |
| Myasthenic Syndrome | SCN4A | 603967 | Sequence analysis of the entire coding region |
| Paramyotonia Congenita | SCN4A | 603967 | Sequence analysis of the entire coding region |
| Muscular Dystrophy, Limb-Girdle, Type 2D | SGCA | 600119 | Please contact us for more details |
| Myoclonus Dystonia | SGCE | 604149 | Sequence analysis of the entire coding region |
| Spinal Muscular Atrophy, Proximal (SMA) | SMN1 | 600354 | Sequence analysis of the entire coding region |
| Spinal Muscular Atrophy, Type III, Modifier Of | SMN2 | 601627 | Please contact us for more details |
| Spinal Muscular Atrophy, X-Linked 2, Infantile | UBA1 | 314370 | Sequence analysis of the entire coding region |
| McLeod Neuroacanthocytosis Syndrome | XK | 314850 | Sequence analysis of the entire coding region |
Neurological Disorders
| Disorder/Phenotype | Gene | MIM Gene | Type of Analysis |
|---|---|---|---|
| Adrenoleukodystrophy | ABCD1 | 300371 | Sequence analysis of the entire coding region |
| Polyneuropathy, Deafness, Ataxia, Retinitis Pigmentosa And Cataract | ABHD12 | 613599 | Sequence analysis of the entire coding region |
| Acyl-CoA Dehydrogenase Family, Member 9, Deficiency Of | ACAD9 | 611103 | Sequence analysis of the entire coding region |
| Coenzyme Q10 Deficiency, Primary, 4 | ADCK3 | 606980 | Sequence analysis of the entire coding region |
| Joubert Syndrome | AHI1 | 608894 | Mutation screening in exons 6, 7, 9, 11, 13, 14 an d 15 of the AHI1 gene |
| Joubert Syndrome | AHI1 | 608894 | Sequence analysis of the entire coding region |
| Combined Oxidative Phosphorylation Deficiency 6 | AIFM1 | 300169 | Sequence analysis of the entire coding region |
| Cowchock Syndrome | AIFM1 | 300169 | Sequence analysis of the entire coding region |
| Epilepsy, Pyridoxine-Dependent; EPD | ALDH7A1 | 107323 | Sequence analysis of the entire coding region |
| Amyotrophic Lateral Sclerosis | ALS2 | 606352 | Sequence analysis of the entire coding region |
| Alpha-Methylacyl-Coa Racemase Deficiency | AMACR | 604489 | Sequence analysis of the entire coding region |
| Amyotrophic Lateral Sclerosis | ANG | 105850 | Sequence analysis of the entire coding region |
| Spinocerebellar Ataxia, Autosomal-Recessive 10, SCAR10 | ANO10 | 613726 | Sequence analysis of the entire coding region |
| Dystonia 24 | ANO3 | 610110 | Sequence analysis of the entire coding region |
| Spinal And Bulbar Muscular Atrophy, (Kennedy Disease), X-Linked | AR | 313700 | Fragment analysis |
| Periventricular Nodular Heterotopia | ARFGEF2 | 605371 | Sequence analysis of the entire coding region |
| Hyperekplexia And Epilepsy | ARHGEF9 | 300429 | Sequence analysis of the entire coding region |
| Mucopolysaccharidosis Type VI | ARSB | 611542 | Sequence analysis of the entire coding region |
| Agenesis Of Corpus Callosum With Abnormal Genitalia | ARX | 300382 | Sequence analysis of the entire coding region |
| Partington X-Linked Mental Retardation Syndrome | ARX | 300382 | Sequence analysis of the entire coding region |
| West-Syndrome | ARX | 300382 | Sequence analysis of the entire coding region |
| X-Linked Lissencephaly With Ambiguous Genitalia | ARX | 300382 | Sequence analysis of the entire coding region |
| Rett Syndrome | ARX | 300382 | Please contact us for more details |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy | ASAH1 | 613468 | Sequence analysis of the entire coding region |
| Neuropathy, Hereditary Sensory And Autonomic, Type 1, HSAN1 | ATL1 | 606439 | Sequence analysis of the entire coding region |
| Spastic Paraplegia Type 3A | ATL1 | 606439 | Sequence analysis of the entire coding region |
| Ataxia Teleangiectatica | ATM | 607585 | Sequence analysis of the entire coding region |
| Dentatorubral-Pallidoluysian Atrophy | ATN1 | 607462 | Expansion detection in the DRPLA gene |
| Kufor-Rakeb Syndrome | ATP13A2 | 610513 | Sequence analysis of the entire coding region |
| Familial Hemiplegic Migraine Type 2 | ATP1A2 | 182340 | Sequence analysis of the entire coding region |
| Menkes Disease | ATP7A | 300011 | Sequence analysis of the entire coding region |
| Neuronopathy X-Linked Distal Hereditary Motor | ATP7A | 300011 | Sequence analysis of the entire coding region |
| Occipital Horn Syndrome | ATP7A | 300011 | Sequence analysis of the entire coding region |
| Alpha-Thalassemia Myelodysplasia Syndrome, Somatic | ATRX | 300032 | Sequence analysis of the entire coding region |
| Mr-Hypotonic Facies Syndrome, X-Linked | ATRX | 300032 | Sequence analysis of the entire coding region |
| Spinocerebellar Ataxia Type 10 | ATXN10 | 611150 | Please contact us for more details |
| Spastic Paraplegia 17, Autosomal Dominant; SPG17 | BSCL2 | 606158 | Sequence analysis of the entire coding region |
| Spastic Paraplegia 43, Autosomal Recessive; SPG43 | C19ORF12 | 614297 | Sequence analysis of the entire coding region |
| Neurodegeneration With Brain Iron Accumulation 4; NBIA4 | C19ORF12 | 614297 | Sequence analysis of the entire coding region |
| Amyotrophic Lateral Sclerosis | C9orf72 | 614260 | Sequence analysis of the entire coding region |
| Episodic Ataxia Type 2 | CACNA1A | 601011 | Sequence analysis of the entire coding region |
| Familial Hemiplegic Migraine Type 1 | CACNA1A | 601011 | Sequence analysis of the entire coding region |
| Spinocerebellar Ataxia Type 6 | CACNA1A | 601011 | Sequence analysis of the entire coding region |
| Childhood Absence Epilepsy | CACNA1H | 607904 | Sequence analysis of the entire coding region |
| Episodic Ataxia Type 5 | CACNB4 | 601949 | Sequence analysis of the entire coding region |
| Idiopathic Generalised Epilepsy (IGE) | CACNB4 | 601949 | Sequence analysis of the entire coding region |
| Juvenile Myoclonus Epilepsy (JME) | CACNB4 | 601949 | Sequence analysis of the entire coding region |
| CASK-Related X-Linked Mental Retardation | CASK | 300172 | Sequence analysis of the entire coding region |
| FG-Syndrome 4 | CASK | 300172 | Sequence analysis of the entire coding region |
| Microcephaly 3, Primary, Autosomal Recessive | CDK5RAP2 | 608201 | Sequence analysis of the entire coding region |
| Epileptic Encephalopathy, Early Infantile, 2 | CDKL5 | 300203 | Sequence analysis of the entire coding region |
| Rett Syndrome, Congenital Variant | CDKL5 | 300203 | Sequence analysis of the entire coding region |
| West-Syndrome | CDKL5 | 300203 | Sequence analysis of the entire coding region |
| Angelman Syndrome-Like | CDKL5 | 300203 | Please contact us for more details |
| Nocturnal Frontal Lobe Epilepsy | CHRNA2 | 118502 | Sequence analysis of the entire coding region |
| Nocturnal Frontal Lobe Epilepsy | CHRNA4 | 118504 | Sequence analysis of the entire coding region |
| Cholinergic Receptor, Neuronal Nicotinic, A Polypeptide 7 | CHRNA7 | 118511 | Sequence analysis of the entire coding region |
| Nocturnal Frontal Lobe Epilepsy | CHRNB2 | 118507 | Sequence analysis of the entire coding region |
| Nocturnal Frontal Lobe Epilepsy | CHRNB3 | 118508 | Sequence analysis of the entire coding region |
| Cervical Dystonia | CIZ1 | 611420 | Sequence analysis of the entire coding region |
| Ceroid Lipofuscinosis, Neuronal, 3 | CLN3 | 607042 | Sequence analysis of the entire coding region |
| Ceroid Lipofuscinosis, Neuronal, 5 | CLN5 | 608102 | Sequence analysis of the entire coding region |
| Cln6-Related Neuronal Ceroid-Lipofuscinosis | CLN6 | 606725 | Sequence analysis of the entire coding region |
| Neuronal Ceroid-Lipofuscinosis | CLN8 | 607837 | Sequence analysis of the entire coding region |
| Pitt-Hopkins-Like Syndrome 1 | CNTNAP2 | 604569 | Sequence analysis of the entire coding region |
| Coenzyme Q10 Deficiency, Primary, 5 | COQ9 | 612837 | Sequence analysis of the entire coding region |
| Leukoencephalopathy With Spheroids | CSF1R | 164770 | Sequence analysis of the entire coding region |
| Epilepsy, Progressive Myoclonic Type 1A (Unverricht And Lundborg) | CSTB | 601145 | Sequence analysis of the entire coding region |
| Ceroid Lipofuscinosis, Neuronal, 10 | CTSD | 116840 | Sequence analysis of the entire coding region |
| Cerebrotendinous Xanthomatosis | CYP27A1 | 606530 | Sequence analysis of the entire coding region |
| Spastic Paraplegia Type 5A | CYP7B1 | 603711 | Please contact us for more details |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity; HBSl | DARS | 603084 | Sequence analysis of the entire coding region |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation; LBSL | DARS2 | 610956 | Sequence analysis of the entire coding region |
| Perry Syndrome | DCTN1 | 601143 | Sequence analysis of the entire coding region |
| Epilepsy, Familial Focal, With Variable Foci | DEPDC5 | 614191 | Sequence analysis of the entire coding region |
| Ceroid Lipofuscinosis, Neuronal, 4B, Autosomal Dominant | DNAJC5 | 611203 | Sequence analysis of the entire coding region |
| Myoclonic Dystonia | DRD2 | 126450 | Sequence analysis of the entire coding region |
| Juvenile Myoclonus Epilepsy (JME) | EFHC1 | 608815 | Sequence analysis of the entire coding region |
| Dejerine-Sottas Syndrome | EGR2 | 129010 | Please contact us for more details |
| Charcot-Marie-Tooth Disease Type 1D And 4E | EGR2 | 129010 | Sequence analysis of the entire coding region |
| Epilepsy, Progressive Myoclonic 2A (Lafora) | EPM2A | 607566 | Sequence analysis of the entire coding region |
| Fatty Acid Hydroxylase-Associated Neurodegeneration | FA2H | 611026 | Sequence analysis of the entire coding region |
| Spastic Paraplegia 35 | FA2H | 611026 | Sequence analysis of the entire coding region |
| Neuropathy, Hereditary Sensory And Autonomic, Type 2, HSAN2 | FAM134B | 613114 | Please contact us for more details |
| Parkinson Pyramidal Syndrome | FBXO7 | 605648 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease, Type 4J | FIG4 | 609390 | Sequence analysis of the entire coding region |
| Periventricular Nodular Heterotopia | FLNA | 300017 | Sequence analysis of the entire coding region |
| Ataxia, Posterior Column, With Retinitis Pigmentosa | FLVCR1 | 609144 | Sequence analysis of the entire coding region |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome; PVHH (Fowler Syndrome) | FLVCR2 | 610865 | Sequence analysis of the entire coding region |
| Fragile X Syndrome | FMR1 | 309550 | Detection of CGG repeats expansion |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency | FOLR1 | 136430 | Sequence analysis of the entire coding region |
| Rett Syndrome, Congenital Variant | FOXG1 | 164874 | Sequence analysis of the entire coding region |
| Neurodegeneration With Brain Iron Accumulation (NBIA) | FTL | 134790 | Sequence analysis of the entire coding region |
| Amyotrophic Lateral Sclerosis | FUS | 137070 | Sequence analysis of the entire coding region |
| Juvenile Myoclonus Epilepsy (JME) | GABRA1 | 137160 | Sequence analysis of the entire coding region |
| Generalised Epilepsy With Febrile Seizures Plus (GEFS+) | GABRD | 137163 | Sequence analysis of the entire coding region |
| Juvenile Myoclonus Epilepsy (JME) | GABRD | 137163 | Sequence analysis of the entire coding region |
| Gamma-Aminobutyric Acid Receptor, G2 | GABRG2 | 137164 | Sequence analysis of the entire coding region |
| Dystonia, Dopa-Responsive | GCH1 | 600225 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease Type 4A | GDAP1 | 606598 | Sequence analysis of the entire coding region |
| Alexander Syndrome | GFAP | 137780 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease Type 1 | GJB1 | 304040 | Sequence analysis of the entire coding region |
| Greig Syndrome | GLI3 | 165240 | Sequence analysis of the entire coding region |
| Hyperekplexia And Epilepsy | GLRA1 | 138491 | Sequence analysis of the entire coding region |
| Hyperekplexia 2, Autosomal Recessive | GLRB | 138492 | Sequence analysis of the entire coding region |
| Dystonia 25 | GNAL | 139312 | Sequence analysis of the entire coding region |
| Epilepsy, Progressive Myoclonic 6 | GOSR2 | 604027 | Sequence analysis of the entire coding region |
| Polymicrogyria | GPR56 | 604110 | Sequence analysis of the entire coding region |
| Febrile Seizures, Familial, 4 | GPR98 | 602851 | Sequence analysis of the entire coding region |
| Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation | GRIN2A | 138253 | Sequence analysis of the entire coding region |
| Ceroid Lipofuscinosis, Neuronal, 11 | GRN | 138945 | Sequence analysis of the entire coding region |
| Frontotemporal Lobar Degeneration With TDP43 Inclusions, GRN-Related | GRN | 138945 | Sequence analysis of the entire coding region |
| Frontotemporal Dementia | GRN | 138945 | Sequence analysis of the entire coding region |
| Frontotemporal Dementia | GRN | 138945 | Deletion/duplication analysis |
| Lesch-Nyhan Syndrome (HPRT1) | HPRT1 | 308000 | Please contact us for more details |
| Huntington Disease | HTT | 613004 | Trinucleotide repeat expansion analysis |
| Mucopolysaccharidosis Type II | IDS | 300823 | Sequence analysis of the entire coding region |
| Neuropathy, Hereditary Sensory And Autonomic, Type 3, HSAN3 | IKBKAP | 603722 | Please contact us for more details |
| Huntington Disease-Like 2 | JPH3 | 605268 | Sequence analysis of the entire coding region |
| Episodic Ataxia Type 1 | KCNA1 | 176260 | Sequence analysis of the entire coding region |
| Spinocerebellar Ataxia 13 | KCNC3 | 176264 | Sequence analysis of the entire coding region |
| Generalised Epilepsy With Paroxysmal Dyskinesia | KCNMA1 | 600150 | Sequence analysis of the entire coding region |
| Benign Neonatal Epilepsy | KCNQ2 | 602235 | Sequence analysis of the entire coding region |
| Benign Neonatal Epilepsy | KCNQ3 | 602232 | Sequence analysis of the entire coding region |
| Epilepsy, Nocturnal Frontal Lobe, 5 | KCNT1 | 608167 | Sequence analysis of the entire coding region |
| Epileptic Encephalopathy, Early Infantile, 14 | KCNT1 | 608167 | Sequence analysis of the entire coding region |
| Spastic Paraplegia Type 8 | KIAA0196 | 610657 | Please contact us for more details |
| Charcot-Marie-Tooth Disease Type 2A1 | KIF1B | 605995 | Sequence analysis of the entire coding region |
| Spastic Paraplegia Type 10 | KIF5A | 602821 | Sequence analysis of the entire coding region |
| Spastic Paraplegia Type 1 | L1CAM | 308840 | Please contact us for more details |
| L1 Syndrome | L1CAM | 308840 | Sequence analysis of the entire coding region |
| Epilepsy, Familial Temporal Lobe, 1 | LGI1 | 604619 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease Type 1C | LITAF | 603795 | Please contact us for more details |
| Charcot-Marie-Tooth Disease Type 2B1 | LMNA | 150330 | Sequence analysis of the entire coding region |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant | LMNB1 | 150340 | Sequence analysis of the entire coding region |
| Parkinson Syndrome | LRRK2 | 609007 | Sequence analysis of the entire coding region |
| Parkinson | LRRK2 | 609007 | Detection of the G2019S and R1441G mutations in the LRRK2 gene |
| Epileptic Encephalopathy, Lennox-Gastaut Type | MAPK10 | 602897 | Sequence analysis of the entire coding region |
| Frontotemporal Dementia With Parkinsonisms | MAPT | 157140 | Sequence analysis of the entire coding region |
| Spastic Ataxia 3, Autosomal Recessive | MARS2 | 609728 | Sequence analysis of the entire coding region |
| Rett Syndrome | MECP2 | 300005 | Sequencing analysis & Deletion/duplication analysis |
| Mental Retardation, Stereotypic Movements, Epilepsy, And/Or Cerebral Malformations | MEF2C | 600662 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease Type 2A | MFN2 | 608507 | Sequence analysis of the entire coding region |
| Neuronal Ceroid-Lipofuscinosis | MFSD8 | 611124 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease Type 1 | MPZ | 159440 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease Type 1B | MPZ | 159440 | Sequence analysis of the entire coding region |
| Dejerine-Sottas Syndrome | MPZ | 159440 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease Type 1B | MPZ | 159440 | Sequence analysis of the entire coding region |
| Dejerine-Sottas Syndrome | MPZ | 159440 | Sequence analysis of the entire coding region & Deletion/duplication analysis |
| Ataxia Teleangiectatica (AT) | MRE11A | 600814 | Sequence analysis of the entire coding region |
| Leigh Mitoncondrial Syndrome | MTATP6 | 516060 | Detection of mutation 8993T>C |
| Charcot-Marie-Tooth Disease Type 2A2 | MTMR2 | 603557 | Sequence analysis of the entire coding region |
| MELAS Syndrome | MTND5 | 516005 | Detection of mutations 12770A>G, 13045A>C, c.1308484A>T, 13513G>A and 13514A>G on the MTND5 mitochondrial gene |
| MELAS Syndrome | MTND5 | 516005 | Sequence analysis of the entire coding region |
| MERRF Syndrome | MTTK | 590060 | Detection of mutations 8344A>G, 8356T>C and 8363G>A in the mitochondrial gene MTTK |
| Charcot-Marie-Tooth Disease Type 4D | NDRG1 | 605262 | Please contact us for more details |
| Charcot-Marie-Tooth Disease Type 1F | NEFL | 162280 | Please contact us for more details |
| Neuropathy, Hereditary Sensory And Autonomic, Type 5, HSAN5 | NGFB | 162030 | Please contact us for more details |
| Lafora Disease | NHLRC1 | 608072 | Sequence analysis of the entire coding region |
| Spastic Paraplegia Type 6 | NIPA | 609383 | Please contact us for more details |
| Chorea, Hereditary Benign | NKX2-1 | 600635 | Sequence analysis of the entire coding region |
| Myoclonus, Familial Cortical | NOL3 | 605235 | Sequence analysis of the entire coding region |
| Joubert Syndrome 4 | NPHP1 | 607100 | Sequence analysis of the entire coding region |
| Neuropathy, Hereditary Sensory And Autonomic, Type 4, HSAN4 | NTRK1 | 191315 | Please contact us for more details |
| Insensitivity To Pain With Anhidrosis | NTRK1 | 191315 | Sequence analysis of the entire coding region & Deletion/duplication analysis |
| Joubert Syndrome Type 10 | OFD1 | 300170 | Sequence analysis of the entire coding region |
| Neurodegeneration With Brain Iron Accumulation (NBIA) | PANK2 | 606157 | Sequence analysis of the entire coding region |
| Parkinson | PARK2 | 602544 | Sequence analysis of the entire coding region |
| Parkinson Disease 7, Autosomal Recessive Early-Onset | PARK7 | 602533 | Sequence analysis of the entire coding region |
| Protocadherin 19 | PCDH19 | 300460 | Sequence analysis of the entire coding region |
| Peroxisome Biogenesis Disorder 1A (Zellweger) | PEX1 | 602136 | Sequence analysis of the entire coding region |
| Peroxisome Biogenesis Disorder 1B | PEX1 | 602136 | Sequence analysis of the entire coding region |
| Peroxisome Biogenesis Disorder 4A (Zellweger) | PEX6 | 601498 | Sequence analysis of the entire coding region |
| Peroxisome Biogenesis Disorder 4B) | PEX6 | 601498 | Sequence analysis of the entire coding region |
| Borjeson-Forssman-Lehmann Syndrome | PHF6 | 300414 | Sequence analysis of the entire coding region |
| Juvenile Parkinson Syndrome | PINK1 | 608309 | Sequence analysis of the entire coding region |
| Parkinson Disease 6, Early Onset | PINK1 | 608309 | Sequence analysis of the entire coding region |
| Juvenile Parkinson Syndrome | PINK1 | 608309 | Detection of the G309D mutation in the PINK1 gene |
| Neurodegeneration With Brain Iron Accumulation (NBIA) | PLA2G6 | 603604 | Sequence analysis of the entire coding region |
| Parkinsonism And Dystonia | PLA2G6 | 603604 | Sequence analysis of the entire coding region |
| Epileptic Encephalopathy, Early Infantile, 12 | PLCB1 | 607120 | Sequence analysis of the entire coding region |
| Spastic Paraplegia Type 2 | PLP1 | 300401 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease Type 1A | PMP22 | 601097 | Sequencing analysis & Deletion/duplication analysis |
| Neuropathy With Liability To Pressure Palsies, Hereditary (HNPP) | PMP22 | 601097 | Please contact us for more details |
| Neuropathy With Liability To Pressure Palsies, Hereditary (HNPP) | PMP22 | 601097 | Sequence analysis of the entire coding region |
| Dejerine-Sottas Syndrome | PMP22 | 601097 | Sequence analysis of the entire coding region & Deletion/duplication analysis |
| Paroxysmal Nonkinesigenic Dyskinesia | PNKD | 609023 | Sequence analysis of the entire coding region |
| Pyridoxinamine 5′-Phosphate Oxidase | PNPO | 603287 | Sequence analysis of the entire coding region |
| Polg-Related Ataxia Neuropathy Spectrum Disorders | POLG | 174763 | Sequence analysis of the entire coding region |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism | POLR3A | 614258 | Sequence analysis of the entire coding region |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism | POLR3B | 614366 | Sequence analysis of the entire coding region |
| Ceroid Lipofuscinosis, Neuronal, 1 | PPT1 | 600722 | Sequence analysis of the entire coding region |
| Renpenning Syndrome 1 | PQBP1 | 300463 | Sequence analysis of the entire coding region |
| Progressive Myoclonus Epilepsy With Ataxia | PRICKLE1 | 608500 | Sequence analysis of the entire coding region |
| Epilepsy, Progressive Myoclonic 1B | PRICKLE1 | 608500 | Sequence analysis of the entire coding region |
| Spinocerebellar Ataxia Type 14 | PRKCG | 176980 | Please contact us for more details |
| Dystonia 16 | PRKRA | 603424 | Sequence analysis of the entire coding region |
| Early Onset Dystonia With Parkinsonism | PRKRA | 603424 | Sequence analysis of the entire coding region |
| Creutzfeldt-Jakob Disease; CJD | PRNP | 176640 | Sequence analysis of the entire coding region |
| Fatal Familial Insomnia; FFI | PRNP | 176640 | Sequence analysis of the entire coding region |
| Gerstmann-Straussler Disease; GSD | PRNP | 176640 | Sequence analysis of the entire coding region |
| Prion Protein Related Diseases | PRNP | 176640 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease X-Linked Recessive, Type 5 | PRPS1 | 311850 | Sequence analysis of the entire coding region |
| Familial Paroxysmal Kinesigenic Dyskinesia | PRRT2 | 614386 | Sequence analysis of the entire coding region |
| Dejerine-Sottas Syndrome | PRX | 605725 | Please contact us for more details |
| Charcot-Marie-Tooth Disease Type 4F | PRX | 605725 | Sequence analysis of the entire coding region |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency | PSAP | 176801 | Sequence analysis of the entire coding region |
| Alzheimer Disease Type 3 | PSEN1 | 104311 | Sequence analysis of the entire coding region |
| Alzheimer Disease Type 4 | PSEN2 | 600759 | Sequence analysis of the entire coding region |
| Hyperphenylalaninemia, BH4-Deficient, A | PTS | 612719 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B | RAB7A | 602298 | Sequence analysis of the entire coding region |
| Neuropathy, Hereditary Sensory And Autonomic, Type 1, HSAN1 | RAB7A | 602298 | Sequence analysis of the entire coding region |
| Smith-Magenis-Syndrome | RAI1 | 607642 | Sequence analysis of the entire coding region |
| Spastic Paraplegia 31, Autosomal Dominant | REEP1 | 609139 | Sequence analysis of the entire coding region |
| Horizontal Gaze Palsy And Scoliosis | ROBO3 | 608630 | Sequence analysis of the entire coding region |
| Coffin Lowry Syndrome | RPS6KA3 | 300075 | Sequence analysis of the entire coding region |
| Spastic Ataxia, Charlevoix-Saguenay Type | SACS | 604490 | Sequence analysis of the entire coding region |
| Dravet Syndrome, Epileptic Encephalopathy, Early Infantile 6 (EIEE6), Severe Myoclonic Epilepsy Of Infancy (SMEI) | SCN1A | 182389 | Sequence analysis of the entire coding region |
| Generalised Epilepsy With Febrile Seizures Plus (GEFS+) | SCN1B | 600235 | Sequence analysis of the entire coding region |
| Epileptic Encephalopathy, Early Infantile, 11; EIEE11 | SCN2A | 182390 | Sequence analysis of the entire coding region |
| Epileptic Encephalopathy, Early Infantile, 13 | SCN8A | 600702 | Sequence analysis of the entire coding region |
| Congenital Indifference To Pain, Autosomal Recessive | SCN9A | 603415 | Sequence analysis of the entire coding region |
| Generalised Epilepsy With Febrile Seizures Plus (GEFS+) | SCN9A | 603415 | Sequence analysis of the entire coding region |
| Paroxysmal Extreme Pain Disorder | SCN9A | 603415 | Sequence analysis of the entire coding region |
| Amyotrophic Lateral Sclerosis | SETX | 608465 | Sequence analysis of the entire coding region |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 | SETX | 608465 | Sequence analysis of the entire coding region |
| Mucopolysaccharidosis Type IIIa | SGSH | 605270 | Sequence analysis of the entire coding region |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis | SIGMAR1 | 601978 | Sequence analysis of the entire coding region |
| Marinesco-Sjogren Syndrome | SIL1 | 608005 | Sequence analysis of the entire coding region |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy; ACCPN (Andermann Syndrome) | SLC12A6 | 604878 | Sequencing of exons 11, 15, 18 and 22 of the SLC12A6 gene |
| Salla Disease | SLC17A5 | 604322 | Sequence analysis of the entire coding region |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Encephalopathy Type 2) | SLC19A3 | 606152 | Sequence analysis of the entire coding region |
| Episodic Ataxia Type 6 | SLC1A3 | 600111 | Sequence analysis of the entire coding region |
| Epileptic Encephalopathy, Early Infantile, 3 | SLC25A22 | 609302 | Sequence analysis of the entire coding region |
| Glut1 Deficiency Syndrome | SLC2A1 | 138140 | Sequence analysis of the entire coding region |
| Glut1 Deficiency Syndrome | SLC2A1 | 138140 | Sequence analysis of the entire coding region |
| Parkinsonism-Dystonia, Infantile | SLC6A3 | 126455 | Sequence analysis of the entire coding region |
| Hyperekplexia 3 | SLC6A5 | 604159 | Sequence analysis of the entire coding region |
| X-Linked Syndromic Mental Retardation, Christianson Type | SLC9A6 | 300231 | Sequence analysis of the entire coding region |
| Tourette Syndrome | SLITRK1 | 609678 | Sequence analysis of the entire coding region |
| Spinal Muscular Atrophy, Proximal (SMA) | SMN1 | 600354 | Expansion detection in the SMN1 gene |
| Parkinson Syndrome | SNCA | 163890 | Sequence analysis of the entire coding region |
| Amyotrophic Lateral Sclerosis | SOD1 | 147450 | Sequence analysis of the entire coding region |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease | SOX10 | 602229 | Sequence analysis of the entire coding region |
| Spastic Paraplegia 4, Autosomal Dominant | SPAST | 604277 | Sequence analysis of the entire coding region |
| Spastic Paraplegia 11, Autosomal Recessive | SPG11 | 610844 | Sequence analysis of the entire coding region |
| Spastic Paraplegia Type 7 | SPG7 | 602783 | Sequence analysis of the entire coding region |
| Dopa-Responsive Dyst. Due To Sepiapterin Red. Deficiency | SPR | 182125 | Sequence analysis of the entire coding region |
| Epileptic Encephalopathy, Early Infantile, 5 | SPTAN1 | 182810 | Sequence analysis of the entire coding region |
| Spinocerebellar Ataxia Type 5 | SPTBN2 | 604985 | Mutation screening in exons 7,12 and 14 of SPTBN2 gene (SCA5) |
| Neuropathy, Hereditary Sensory And Autonomic, Type 1, HSAN1 | SPTLC1 | 605712 | Sequence analysis of the entire coding region |
| Neuropathy, Hereditary Sensory And Autonomic, Type 1, HSAN1 | SPTLC2 | 605713 | Sequence analysis of the entire coding region |
| Rolandic Epilepsy | SRPX2 | 300642 | Sequence analysis of the entire coding region |
| Epileptic Encephalopathy, Early Infantile, 4 | STXBP1 | 602926 | Sequence analysis of the entire coding region |
| Sulfite Oxidase Deficiency | SUOX | 606887 | Sequence analysis of the entire coding region |
| X-Linked Dystonia-Parkinsonism Syndrome | TAF1 | 313650 | Sequence analysis of the entire coding region |
| Amyotrophic Lateral Sclerosis | TARDBP | 605078 | Sequence analysis of the entire coding region |
| Spinocerebellar Ataxia 17 | TBP | 600075 | Sequence analysis of the entire coding region |
| Tyrosine Hydroxylase Deficient Dopa-Responsive Dystonia (Segawa) | TH | 191290 | Sequence analysis of the entire coding region |
| Primary Dystonia DYT6 | THAP1 | 609520 | Sequence analysis of the entire coding region |
| Joubert Syndrome 2 | TMEM216 | 613277 | Sequence analysis of the entire coding region |
| Coach Syndrome | TMEM67 | 609884 | Sequence analysis of the entire coding region |
| Joubert Syndrome Type 6 | TMEM67 | 609884 | Sequence analysis of the entire coding region |
| Early-Onset Primary Dystonia Torsion Dystonia 1, Autosomal Dominant; DYT1 | TOR1A | 605204 | Sequence analysis of the entire coding region |
| Dystonia 1, Torsion, Autosomal Dominant | TOR1A | 605204 | Sequence analysis of the entire coding region |
| Dystonia 1, Torsion, Autosomal Dominant | TOR1A | 605204 | Detection of deletion in the DYT1 gene |
| Neuronal Ceroid Lipofuscinosis | TPP1 | 607998 | Sequence analysis of the entire coding region |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy | TREM2 | 605086 | Sequence analysis of the entire coding region |
| Charcot-Marie-Tooth Disease Type 2C | TRPV4 | 605427 | Sequence analysis of the entire coding region |
| Hereditary Motor And Sensory Neuropathy Type 2C | TRPV4 | 605427 | Sequence analysis of the entire coding region |
| Pontocerebellar Hypoplasia Type 2A | TSEN54 | 608755 | Sequence analysis of the entire coding region |
| Polymicrogyria With Optic Nerve Hypoplasia | TUBA8 | 605742 | Sequence analysis of the entire coding region |
| Polymicrogyria | TUBB2B | 612850 | Sequence analysis of the entire coding region |
| Dystonia 4, Torsion, Autosomal Dominant | TUBB4A | 602662 | Sequence analysis of the entire coding region |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy | TYROBP | 604142 | Sequence analysis of the entire coding region |
| Angelman Syndrome | UBE3A | 601623 | Sequence analysis of the entire coding region |
| Angelman Syndrome | UBE3A | 601623 | Deletion analysis |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis | UBQLN2 | 300264 | Sequence analysis of the entire coding region |
| Spinal Muscular Atrophy, Proximal Adult Autosomal | VAPB | 605704 | Sequence analysis of the entire coding region |
| Amyotrophic Lateral Sclerosis | VCP | 601023 | Sequence analysis of the entire coding region |
| Chorea-Acanthocytosis | VPS13A | 605978 | Sequence analysis of the entire coding region |
| Cohen Syndrome | VPS13B | 607817 | Sequence analysis of 23 exons of the COH1 gene |
| Parkinson Disease 17 | VPS35 | 601501 | Sequence analysis of the entire coding region |
| Pontocerebellar Hypoplasia Type 1 | VRK1 | 602168 | Sequence analysis of the entire coding region |
| Neuropathy, Hereditary Sensory And Autonomic, Type II | WNK1 | 605232 | Sequence analysis of the entire coding region |
| Neuropathy, Hereditary Sensory And Autonomic, Type 2, HSAN2 | WNK1 | 605232 | Please contact us for more details |
| Mowat Wilson Syndrome | ZEB2 | 605802 | Sequence analysis of the entire coding region |
| Spastic Paraplegia 15, Autosomal Recessive | ZFYVE26 | 612012 | Sequence analysis of the entire coding region |
| Holoprosencephaly | ZIC2 | 603073 | Sequence analysis of the entire coding region |
| Alzheimer Disease Type 2 | APOE | 107741 | Sequence analysis of the entire coding region |
| Alzheimer Disease Type 1 | APP | 104760 | Sequence analysis of the entire coding region |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia | APTX | 606350 | Sequence analysis of the entire coding region |
| Spinal And Bulbar Muscular Atrophy, (Kennedy Disease), X-Linked | AR | 313700 | Sequence analysis of the entire coding region |
| Rapid Onset Dystonia With Parkinsonism | ATP1A3 | 182350 | Sequence analysis of the entire coding region |
| Frontotemporal Dementia | C9orf72 | 614260 | Sequence analysis of the entire coding region |
| Paroxysmal Familial Ataxia | CACNA1A | 601011 | Sequence analysis of the entire coding region |
| Frontotemporal Dementia | CHMP2B | 609512 | Sequence analysis of the entire coding region |
| Lissencephaly, X-Linked, 1 | DCX | 300121 | Sequence analysis of the entire coding region |
| Aarskog-Scott Syndrome | FGD1 | 305400 | Sequence analysis of the entire coding region |
| Paroxysmal Nonkinesiogenic Dyskinesia 1 | MR1 | 118800 | Sequence analysis of the entire coding region |
| CADASIL | NOTCH3 | 600276 | Sequence analysis of the entire coding region |
| Holoprosencephaly | TMEM1 | 602103 | Sequence analysis of the entire coding region |