Neurology Gene Panels

Genetic Testing in Neurology

Genetic testing is increasingly vital in the field of neurology, where many conditions such as epilepsy and dementia have a genetic origin. Identifying the genetic basis of a neurological disorder can provide diagnostic clarity, especially in complex or early-onset cases, and can help differentiate between overlapping clinical syndromes. A confirmed genetic diagnosis can guide treatment decisions, inform prognosis, and determine eligibility for targeted therapies or clinical trials. Additionally, genetic testing enables early identification of at-risk family members and supports reproductive decision-making. As precision medicine continues to evolve, genetic insights are becoming indispensable for delivering more accurate, individualised, and effective care for patients with neurological conditions.

Genetic testing for neurological conditions can help you, the healthcare practitioner, to:

  • Identify patients who are at risk of developing neurological conditions, enabling them to take preventative measures where possible.
  • Closely monitor patients with a known neurological condition predisposition thereby facilitating early detection and treatment, which is known to have a positive impact on patient outcomes.
  • Identify and access targeted therapies that may benefit your patient.
  • Identify family members who may also be a risk, roll out cascade testing, and begin taking preventative measures where appropriate.
  • Direct your patients towards helpful patient resources and support groups.
  • Assist your patients with family planning.

Neurology Gene Panel Tests available at Genseq

Genseq offer 31 neurology gene panels (see table below). These are in silico panels based on whole exome sequencing (WES) data. All panels include single nucleotide variants (SNV), small insertions/deletions (indels), and copy number variation (CNV) analysis.

Test Code

NUE1002

Test Name

Acute Rhabdomyolysis Panel

No. of Genes

53

Panel Content

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Test Code

NUE1003

Test Name

Adult-onset Dystonia, Chorea or related movement disorder Panel

No. of Genes

67

Panel Content

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Test Code

NUE1004

Test Name

Adult-onset Hereditary Spastic Paraplegia (HSP) Panel

No. of Genes

53

Panel Content

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Test Code

NUE1005

Test Name

Adult Onset Leukodystrophy Panel

No. of Genes

80

Panel Content

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Test Code

NUE1006

Test Name

Adult-onset Neurodegenerative Disorder Panel

No. of Genes

117

Panel Content

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Test Code

NUE1007

Test Name

Arthrogryposis Panel

No. of Genes

158

Panel Content

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Test Code

NUE1008

Test Name

Cerebral Malformation Panel

No. of Genes

126

Panel Content

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Test Code

NUE1009

Test Name

Cerebral Vascular Malformations Panel

No. of Genes

16

Panel Content

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Test Code

NUE1015

Test Name

Childhood Onset Dystonia, Chorea or Related Movement Disorder Panel

No. of Genes

190

Panel Content

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Test Code

NUE1016

Test Name

Childhood Onset Hereditary Spastic Paraplegia Panel

No. of Genes

113

Panel Content

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Test Code

NUE1017

Test Name

Childhood Onset Leukodystrophy Panel

No. of Genes

1906

Panel Content

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Test Code

NUE1010

Test Name

Comprehensive Epilepsy Panel

No. of Genes

511

Panel Content

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Test Code

NUE1001

Test Name

Comprehensive Neurology Panel

No. of Genes

2407

Panel Content

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Test Code

NUE1013

Test Name

Congenital Muscular Dystrophy Panel

No. of Genes

46

Panel Content

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Test Code

NUE1011

Test Name

Congenital Myaesthenic Syndromes Panel

No. of Genes

27

Panel Content

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Test Code

NUE1012

Test Name

Congenital Myopathy Panel

No. of Genes

74

Panel Content

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Test Code

NUE1014

Test Name

Dementia Panel

No. of Genes

58

Panel Content

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Test Code

NUE1018

Test Name

Early-onset or Syndromic Epilepsy Panel

No. of Genes

600

Panel Content

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Test Code

NUE1019

Test Name

Hereditary Ataxia and Cerebellar Anomalies - Childhood Onset Panel

No. of Genes

363

Panel Content

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Test Code

NUE1020

Test Name

Hereditary Ataxia and Cerebellar Anomalies Panel - Onset in Adulthood

No. of Genes

Panel Content

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Test Code

NUE1021

Test Name

Hereditary Neuropathy or Pain Disorder Panel

No. of Genes

225

Panel Content

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Test Code

NUE1022

Test Name

Holoprosencephaly Panel

No. of Genes

15

Panel Content

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Test Code

NUE1023

Test Name

Hydrocephalus Panel

No. of Genes

76

Panel Content

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Test Code

NUE1023

Test Name

Intellectual Disability Panel

No. of Genes

1459

Panel Content

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Test Code

NUE1025

Test Name

Limb Girdle Muscular Dystrophies, Myofibrillar Myopathies and Distal Myopathies Panel

No. of Genes

67

Panel Content

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Test Code

NUE1026

Test Name

Macrocephaly Panel

No. of Genes

48

Panel Content

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Test Code

NUE1027

Test Name

Malignant Hyperthermia Panel

No. of Genes

3

Panel Content

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Test Code

NUE1028

Test Name

Paroxysmal Central Nervous System Disorders Panel

No. of Genes

20

Panel Content

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Test Code

NUE1029

Test Name

Rare Neuromuscular Disorders Panel

No. of Genes

226

Panel Content

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Test Code

NUE1030

Test Name

Severe Microcephaly Panel

No. of Genes

198

Panel Content

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Test Code

NUE1031

Test Name

Skeletal Muscle Channelopathy Panel

No. of Genes

10

Panel Content

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Test Code

NUE1032

Test Name

Tuberous Sclerosis Panel

No. of Genes

2

Panel Content

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