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.