​پنل تشخیص بیماری‌های عصبی

هدف از انجام آزمایش: 

نوع نمونه‌ی مورد نیاز: 

خون

مدت زمان جواب‌دهی:  

شرایط لازم برای نمونه‌گیری: 

موارد مورد بررسی:

Actionable Epilepsy

Adolescent/Adult Epilepsy

Aicardi-Goutieres Syndrome

Alzheimer and Dementia

Amyotrophic Lateral Sclerosis

Arthrogryposis

Ataxia

Ataxia Repeat Expansion Analysis by NGS

Ataxia with Oculomotor Apraxia Type 1/2

ATN1 (Dentatorubral-Pallidoluysian Atrophy) Repeat Expansion

ATXN1 (Spinocerebellar Ataxia Type 1) Repeat Expansion Analysis

ATXN10 (Spinocerebellar Ataxia Type 10) Repeat Expansion

ATXN2 (Spinocerebellar Ataxia Type 2) Repeat Expansion

ATXN3 (Spinocerebellar Ataxia Type 3) Repeat Expansion

ATXN7 (Spinocerebellar Ataxia Type 7) Repeat Expansion

ATXN8/ATXN8OS (Spinocerebellar Ataxia 8) Repeat Expansion

ATXN8OS (Spinocerebellar Ataxia 8) Repeat Expansion

Autism

Basal Ganglia Calcification

BEAN1 (Spinocerebellar Ataxia 31) Repeat Expansion

Brain-Iron Accumulation

CADASIL

Cerebellar Hypoplasia

Cerebral Cavernous Malformations

Cerebral Cortical Malformation

Charcot Marie Tooth Disease Extended

Childhood Epilepsy

Chromosomal Sequencing Analysis

Ciliopathies

Cockayne Syndrome

Coffin-Siris Syndrome

Cornelia De Lange Syndrome

Distal Hereditary Motor Neuropathy

Dravet Syndrome

Dystonia Dyskinesia

Early Onset Familial Alzheimer Disease (EOFAD)

Early-Onset Ataxia

Epilepsy Comprehensive

FGFR-Related Craniosynostosis

FMR1 Repeat Expansion Analysis

FXN (Freidriech Ataxia) Repeat Expansion

Hemiplegia/Stroke

Hereditary Neuropathies

Hirschsprung Disease

Holoprosencephaly

Intellectual Disability

Joubert and Meckel

Joubert Syndrome

Late-Onset Ataxia

Leukoencephalopathy

Lipodystrophy

Lissencephaly

Lysosomal Disorders

Microcephaly

Migraine

mtDNA Depletion Syndrome

Neonatal Epilepsy

Neurofibromatosis

Neuromuscular

Neuronal Ceroid Lipofuscinosis

Neuronal Migration Disorders

NOP56 (SCA36) Repeat Expansion

Parkinson Disease Comprehensive

Parkinson-Alzheimer-Dementia

Polymicrogyria

Pontocerebellar Hypoplasia

Prader-Willi/Angelman Syndrome with Methylation Analysis

Progressive Myoclonic Epilepsy

Rett-Angelman

Rubinstein-Taybi Syndrome

Schwannomatosis

Septo-optic Dysplasia

Spastic Paraplegia

Spinocerebellar Ataxia Type 12 (PPP2R2B) Repeat Expansion

Spinocerebellar Ataxia Type 6 (CACNA1A) Repeat Expansion

TBP (Spinocerebellar Ataxia Type 17) Repeat Expansion

Tuberous Sclerosis

Walker Warburg Syndrome

X-Inactivation Analysis

XLID (X-Linked Intellectual Disability)

Zellweger Syndrome

توضیحات:

تشخیص قطعی با استفاده از آزمایش ژنتیک اساس درمان مؤثر و مدیریت بسیاری از ناهنجاری‌های مغز و دستگاه عصبی می‌باشد. این پنل بررسی بیش از 1850 ژن مرتبط با بیماری‌های ارثی عصبی را امکان‌پذیر کرده است.