301-519-2100 • FAX 301-519-2892 • 207 PERRY PARKWAY GAITHERSBURG, MD 20877
  
SEARCH

Genetic Testing for Neurological Disorders

Neurodevelopmental disorders (NDDs) encompass a large group of clinical conditions with neurological, intellectual, cognitive, and behavioral impairments. Many of these disorders have overlapping clinical features, such as syndromic and non-syndromic intellectual disability, epilepsy, autism, and developmental delay. The etiology of these disorders is heterogeneous and complex. Genetic causes are found in 30% of individuals with intellectual disability, most individuals with idiopathic seizure disorders, and 10-20% of individuals with autism spectrum disorders. To aid in the diagnostic workup for NDD, GeneDx has developed a comprehensive genetic testing program.

Available Now: Comprehensive Mitochondrial Nuclear Gene Panel (Sequencing and del/dup testing for 101 genes) -- Please see Mitochondrial tab below.


 Neurology Submission Form
(Includes Payment Options & Consent Form)

 Billing Information

 
  • Next-Gen sequence analysis and exon-level deletion/duplication analysis
(click each sub-panel below for components of each)




 


Testing of the Mitochondrial genome (mtDNA)


 


Testing of Nuclear Genes Important for Normal Mitochondrial Function
  • Comprehensive Mitochondrial Nuclear Gene Panel - Includes 101 genes 
 Test Information Sheet       Mito 101 Gene List & Associated Disorders
  • Oxidative Phosphorylation (OXPHOS) Deficiency Nuclear Gene Panel (81 genes)     
 Test Information Sheet
  • Mitochondrial Encephalopathy/Leigh Syndrome Nuclear Gene Panel (63 genes)        
 Test Information Sheet
  • Lactic Acidosis/Pyruvate Matobolism Nuclear Gene Panel (69 genes)                         
 Test Information Sheet
  • Progressive External Ophthalmoplegia (PEO)/Optic Atrophy Nuclear Gene Panel (16 genes) 
 Test Information Sheet
  • Methylglutaconic Aciduria Nuclear Gene Panel (9 genes)                                               
 Test Information Sheet
  • Deletion/Duplication Testing of Nuclear Genes Important for Normal Mitochondrial Function 
 Test Information Sheet
  • POLG Sequence Analysis 
 Test Information Sheet
  • PUS1 Sequence Analysis in Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA) 
 Test Information Sheet
 
 
 

References that can be found on http://www.PubMed.gov for Mitochondrial Disorders:
 
  1. Oliveira et al., (2005) Dev Med Child Neurol 47:185-189.
  2. Zhu et al., (2009) Acta Biochim Biophys Sin 41:179-187.
  3. Chinnery, P. Gene Reviews (2006) Mitochondrial Disorders Overview.
  4. Tarnopolsky, M and Raha S. (2005) Med Sci Sports Exerc 37:2086-93.
  5. van Adel, B. and Tarnopolsky, M. (2009) J Clin Neuromusc Dis 10:97-121.
  6. Longo, N. (2003) Neurol Clin N Am 21:817-831.
  7. DiMaruo, S. Gene Reviews (2007) Mitochondrial DNA Deletion Syndromes.
  8. DiMauro, S. Gene Reviews (2005) MERRF.
  9. Thorburn, D. Gene Reviews (2006) Mitochondrial DNA-Associated Leigh Syndrome and NARP.
  10. DiMauro, S. Gene Reviews (2005) MELAS.
  11. Yu-Wai-Man, P and Chinnery, P. Gene Reviews (2008) Leber Hereditary Optic Neuropathy.
  12. Wani et al., (2007) PLoS One 2:e942.
  13. Remes et al., (2005) Neurology 64:976-981.
  14. Chinault et al., (2009) Genet Med 11:518-526.
  15. Wong et al., (2003) J Med Genet 40:e125.
  16. Bai, R. and Wong, J. (2005) J Mol Diagn 7:613-22.
 
Information on Support Groups for Mitochondrial Disorders, go to http://www.umdf.org.

 

 


Disorder Genes
Cobalamin C deficiency

MMACHC Sequencing
Dopa-responsive dystonia

GCH1 Sequencing and Del/Dup
Dopa-responsive dystonia/ Infantile Parkinsonism/ TH deficiency

TH Sequencing
Fabry disease

GLA Sequencing
Krabbe disease

GALC Sequencing and Del/Dup
Mucolipidosis IV

MCOLN1 Sequencing
Niemann-Pick disease Type A / B
Niemann-Pick disease Type C

SMPD1 Sequencing
NPC1, NPC2 Sequencing
Ornithine transcarbamylase deficiency

OTC Sequencing and Del/Dup analysis in females/OTC Sequencing only in males
Pyruvate dehydrogenase deficiency E1-Alpha
Pyruvate dehydrogenase deficiency E1-Beta

PDHA1 Sequencing
PDHB Sequencing
Smith-Lemli-Opitz syndrome

DHCR7 Sequencing
Tay-Sachs disease

HEXA Sequencing
Trifunctional protein deficiency

HADHA, HADHB Sequencing
VLCAD deficiency

ACADVL Sequencing

 



Disorder/Clinical Features Genes
Aicardi-Goutieres syndrome

TREX1, RNASEH2A, RNASEH2B, RNASEH2C Sequencing
Alexander disease

GFAP sequencing
Allgrove (Triple-A) syndrome

AAAS sequencing
Angelman syndrome

UBE3A Sequencing and Del/DupA
Angelman-like syndrome/Christianson syndrome

SLC9A6 sequencing
Atypical Rett syndrome/infantile spasms/West syndrome

CDKL5 Sequencing and Del/Dup
Autism/Intellectual disability

Whole-genome array CGH
Cerebral cavernous malformations

KRIT1, CCM2, PCDC10 Sequencing and Del/Dup
Coffin-Lowry syndrome

RPS6KA3 Sequencing and Del/Dup
Cohen syndrome

VPS13B sequencing
Congenital insensitivity to pain and anhidrosis

NTRK1 Sequencing
Fragile X Syndrome

FMR1 CGG repeat analysis
Gorlin syndrome

PTCH1 sequencing and del/dup
Hereditary inclusion body myopathy

Targeted testing for M712T mutation in GNE
Holoprosencephaly

SHH, ZIC2, SIX3,TGIF Sequencing and Del/Dup
Incontinentia pigmenti

IKBKG [NEMO] common deletion assay and sequencing for females only
Nemaline myopathy

ACTA1 sequencing and Ashkenazi Jewish founder mutation in NEB gene
PTEN-related disorders

PTEN sequencing and del/dup
Rett syndrome / Atypical Rett syndrome

MECP2 Sequencing and Del/Dup
Rubinstein-Taybi syndrome

CREBBP Sequencing and Del/Dup
Septo-optic dysplasia

HEXS1 Sequencing
Simpson-Golabi-Behmel syndrome

GPC3 Sequencing and Del/Dup in females/Sequencing only in males
Smith-Magenis syndrome

RAI1 Sequencing and Intragenic Del/Dup
Spinal muscular atrophy with respiratory distress, type 1

IGHMBP2 Sequencing
Sotos Syndrome

NSD1 Sequencing and Del/Dup
X-linked hydrocephalus/X-linked spastic paraplegia/MASA/CRASH syndrome

L1CAM Sequencing and Del/Dup)