Genomics Precision Diagnostic > Neurology Precision Panel > Amyotrophic Lateral Sclerosis Precision Panel

Amyotrophic Lateral Sclerosis Precision Panel

Amyotrophic Lateral Sclerosis (ALS) is the most common degenerative disease of the motor neuron system. It is characterized by the progressive loss of motor neurons in the brain and spinal cord, leading to paralysis.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

Overview

Amyotrophic Lateral Sclerosis (ALS) is the most common degenerative disease of the motor neuron system. It is characterized by the progressive loss of motor neurons in the brain and spinal cord, leading to paralysis. It begins insidiously with focal weakness but spreads ceaselessly to involve most muscles, including the diaphragm. The diagnosis of ALS rests on a history of painless progressive weakness coupled with examination findings of upper and lower motor dysfunction. Typically, death is due to respiratory paralysis and it occurs within 3 to 5 years of diagnosis. Many different genes and pathophysiological processes contribute to the disease, more so, there are two types of ALS differentiated by genetics: familial and sporadic. Although ALS is incurable and fatal, with median survival of 3 years, early treatment can lengthen and substantially increase quality of life for patients.
The Igenomix Amyotrophic Lateral Sclerosis Precision Panel can serve as an accurate and directed diagnostic tool ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.

Indication

The Igenomix Amyotrophic Lateral Sclerosis Precision Panel is indicated in patients with a clinical suspicion or diagnosis presenting with the following manifestations:
- Reduced finger dexterity and cramping
- Tripping, stumbling or awkwardness when running
- Wrist drop and foot drop
- Slurred speech and hoarseness
- Depression
- Impaired executive function
- Aspiration or choking
- Muscle atrophy
- Spasticity
- Muscle cramps
- Voice changes

Clinical Utility

The clinical utility of this panel is:

The genetic and molecular diagnosis for an accurate clinical diagnosis of a symptomatic patient.
Early initiation of treatment with a multidisciplinary team in the form of medical care with riluzole, enteral nutrition, non-invasive ventilation and preventive measures of complications.
Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
Improvement of delineation of genotype-phenotype correlation.

Genes & Diseases

See all genes and diseases

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*ALS2*	Amyotrophic Lateral Sclerosis, Primary Lateral Sclerosis, Spastic Paralysis	AR	99.09	83 of 83
*ANG*	Amyotrophic Lateral Sclerosis	AD	–	–
*ANXA11*	Amyotrophic Lateral Sclerosis	AD	99.91	15 of 15
*ATL1*	Neuropathy, Spastic Paraplegia	AD	100	93 of 93
*ATXN2*	Parkinson Disease, Spinocerebellar Ataxia, Amyotrophic Lateral Sclerosis	AD	91.78	9 of 10
*BSCL2*	Encephalopathy, Lipodystrophy, Neuronopathy, Spastic Paraplegia, Neurodegenerative Syndrome	AD,AR	99.83	60 of 61
*C9ORF72*	Amyotrophic Lateral Sclerosis, Frontotemporal And Semantic Dementia, Huntington Disease, Aphasia	AD	–	–
*CCNF*	Amyotrophic Lateral Sclerosis	–	99.11	22 of 23
*CFAP410*	Retinal Dystrophy, Spondylometaphyseal Dysplasia, Amyotrophic Lateral Sclerosis, Cone Rod Dystrophy	AR	–	–
*CHCHD10*	Frontotemporal Dementia, Myopathy, Spinal Muscular Atrophy, Amyotrophic Lateral Sclerosis	AD	95.3	22 of 30
*CHMP2B*	Amyotrophic Lateral Sclerosis, Frontotemporal And Semantic Dementia, Aphasia	AD	99.99	22 of 22
*DAO*	Amyotrophic Lateral Sclerosis	–	100	12 of 12
*DCTN1*	Amyotrophic Lateral Sclerosis, Neuronopathy , Parkinsonism, Perry Syndrome	AD,AR	100	56 of 56
*EPHA4*	Amyotrophic Lateral Sclerosis	–	99.98	5 of 5
*ERBB4*	Amyotrophic Lateral Sclerosis	AD	100	13 of 14
*FIG4*	Amyotrophic Lateral Sclerosis, Charcot-Marie-Tooth Disease, Cleidocranial Dysplasia, Polymicrogyria, Yunis-Varon Syndrome	AD,AR	99.92	72 of 72
*FUS*	Amyotrophic Lateral Sclerosis, Frontotemporal Dementia, Myxoid Cell Liposarcoma	AD	100	117 of 117
*GBE1*	Glycogen Storage Disease, Polyglucosan Body Disease	AR	99.95	71 of 74
*GLE1*	Congenital Arthrogryposis, Anterior Horn Cell Disease, Lethal Congenital Contracture Syndrome, Amyotrophic Lateral Sclerosis	AR	100	17 of 17
*GLT8D1*	Amyotrophic Lateral Sclerosis	–	100	7 of 7
*GRN*	Ceroid Lipofuscinosis, Progressive Non- Fluent Aphasia, Frontotemporal And Semantic Dementia	AD,AR	100	220 of 229
*HEXA*	Tay-Sachs Disease	AR	100	205 of 206
*HNRNPA1*	Amyotrophic Lateral Sclerosis, Inclusion Body Myopathy, Paget Disease, Frontotemporal Dementia	AD	99.98	13 of 13
*HNRNPA2B1*	Inclusion Body Myopathy, Paget Disease, Frontotemporal Dementia	–	99.98	5 of 6
*HSPD1*	Leukodystrophy, Spastic Paraplegiainant	AD,AR	100	7 of 7
*KIF5A*	Amyotrophic Lateral Sclerosis, Myoclonus, Spastic Paraplegia	AD	100	85 of 85
*MAPT*	Frontotemporal And Semantic Dementia, Parkinson Disease, Supranuclear Palsy, Aphasia, Gait Freezing Syndrome	AD,AR	97.65	110 of 111
*MATR3*	Amyotrophic Lateral Sclerosis, Vocal Cord And Pharyngeal Distal Myopathy	AD	99.98	21 of 21
*NEFH*	Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease	AD,AR	97.5	28 of 31
*NEK1*	Amyotrophic Lateral Sclerosis, Short Rib- Polydactyly Syndrome, Orofaciodigital Syndrome	AD,AR,MU,D	99.83	73 of 74
*OPTN*	Amyotrophic Lateral Sclerosis, Glaucoma	AD,AR	97.02	68 of 68
*PFN1*	Amyotrophic Lateral Sclerosis	AD	80.25	8 of 8
*PON1*	Amyotrophic Lateral Sclerosis	–	100	8 of 8
*PON2*	Amyotrophic Lateral Sclerosis	–	99.98	3 of 3
*PON3*	Amyotrophic Lateral Sclerosis	–	100	3 of 3
*PPARGC1A*	Amyotrophic Lateral Sclerosis	–	99.88	6 of 6
*PRF1*	Aplastic Anemia, Hemophagocytic Lymphohistiocytosis, Lymphoma Non-Hodgkin	AR	99.99	196 of 196
*PRPH*	Amyotrophic Lateral Sclerosis	AD,AR	100	10 of 10
*PSEN1*	Acne Inversa, Alzheimer Disease, Cardiomyopathy, Frontotemporal And Semantic Dementia, Pick Disease Of Brain	AD	100	326 of 332
*REEP1*	Neuronopathy, Spastic Paraplegia	AD	100	62 of 62
*SETX*	Amyotrophic Lateral Sclerosis, Spinocerebellar Ataxia	AD,AR	99.71	219 of 227
*SIGMAR1*	Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy	AR	100	20 of 20
*SLC52A2*	Brown-Vialetto-Van Laere Syndrome, Spinocerebellar Ataxia-Blindness- Deafness Syndrome	AR	100	31 of 32
*SLC52A3*	Bulbar Palsy	AR	100	43 of 43
*SOD1*	Amyotrophic Lateral Sclerosis, Spastic Tetraplegia And Axial Hypotonia	AD,AR	100	217 of 221
*SPART*	Spastic Paraplegia	AR	99.9	–
*SPAST*	Spastic Paraplegia	AD	99.98	616 of 655
*SPG11*	Amyotrophic Lateral Sclerosis, Charcot- Marie-Tooth Disease, Spastic Paraplegia	AR	99.93	289 of 297
*SQSTM1*	Frontotemporal And Semantic Dementia, Amyotrophic Lateral Sclerosis, Myopathy, Neurodegeneration, Dystonia, Gaze Palsy, Paget Disease Of Bone	AD,AR	99.25	105 of 107
*TAF15*	Chondrosarcoma, Amyotrophic Lateral Sclerosis	–	95.53	13 of 13
*TARDBP*	Amyotrophic Lateral Sclerosis, Frontotemporal Dementia	AD	90.84	71 of 74
*TBK1*	Encephalopathy, Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Herpes Simplex Virus Encephalitis	AD	99.91	141 of 142
*TIA1*	Welander Distal Myopathy	AD,AR	100	13 of 13
*TREM2*	Polycystic Lipomembranous Osteodysplasia, Sclerosing Leukoencephalopathy, Amyotrophic Lateral Sclerosis, Frontotemporal And Semantic Dementia, Alzheimer Disease, Nasu-Hakola Disease	AD	100	55 of 55
*TRPM7*	Amyotrophic Lateral Sclerosis, Parkinsonism	AD	99.59	6 of 6
*TUBA4A*	Amyotrophic Lateral Sclerosis, Frontotemporal Dementia	AD	99.97	13 of 13
*UBQLN2*	Amyotrophic Lateral Sclerosis, Frontotemporal Dementia	X,XD,G	99.78	–
*UNC13A*	Amyotrophic Lateral Sclerosis	–	99.41	12 of 12
*VAPB*	Amyotrophic Lateral Sclerosis, Spinal Muscular Atrophy	AD	100	9 of 9
*VCP*	Amyotrophic Lateral Sclerosis, Charcot-Marie- Tooth Disease, Inclusion Body Myopathy, Paget Disease, Frontotemporal and Semantic Dementia, Spastic Paraplegia	AD	100	68 of 69
*WASHC5*	Dandy-Walker- Like Malformation, Spastic Paraplegia, 3c Syndrome	AD,AR	99.99	–

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial

** HGMD: Number of clinically relevant mutations according to HGMD

Methodology

References

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Amyotrophic Lateral Sclerosis Precision Panel

Amyotrophic Lateral Sclerosis (ALS) is the most common degenerative disease of the motor neuron system. It is characterized by the progressive loss of motor neurons in the brain and spinal cord, leading to paralysis.

Overview

Indication

Clinical Utility

Genes & Diseases

Methodology

References

BROCHURE

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