Genomic Unity® Movement Disorders Analysis

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Test Description

Test Code – NR006

Movement disorders are a group of neurological conditions characterized by changes in speed, intention, or style of a person’s movements, whether voluntary or involuntary. Movement disorders can include ataxia, dystonia, chorea, myoclonus, parkinsonism, and tremors.

Genomic Unity® Movement Disorders Analysis uses a whole genome sequencing platform to diagnose genetic causes of abnormal movements, such as ataxias, choreas, tremors, dystonias, and others in 231 genes.

When to order

Order this test when clinical symptoms are consistent with impaired movement including ataxia, imbalance, gait disturbance, spasms and tremors, or other abnormal movements. You also have the option to reflex up to Genomic Unity® Exome Analysis or Genomic Unity® Exome Plus Analysis if targeted analysis is non-diagnostic.

Included Analyses

  • Sequence analysis of movement disorder-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants)
  • Copy number variant analysis of movement disorder-associated genes (duplications/deletions, mobile element insertions, and inversions)
  • Short tandem repeat (STR) analysis of: ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FMR1, FXN, HTT, JPH3, NOP56, NOTCH2NLC, PPP2R2B, TBP

Optionally includes:

Included Genes

AllABCDEFGHIJKLMNOPQRSTUVWXYZ

Note: The ATXN7 and CAMTA1 genes are not fully covered by this test, therefore not all pathogenic variants may be detected. The false negative rate for repeat expansions has not been determined for ATXN10, JPH3, NOP56, NOTCH2NLC and TBP.

Disorders

This test covers many disorders including:

  • Ataxia Telangiectasia
  • Coenzyme Q10 deficiency
  • Dentatorubral-pallidoluysian atrophy (DRPLA)
  • Dopa-responsive dystonia
  • Friedreich’s ataxia
  • Infantile onset ascending spastic paraplegia
  • Marinesco-Sjogren syndrome
  • Mitochondrial recessive ataxia syndrome
  • Myoclonus-Dystonia
  • Parkinson’s disease
  • Primary torsion dystonia
  • Spinocerebellar ataxias
  • Tyrosine hydroxylase deficiency

Test Performance

 %
Sensitivity for SNVs
 >  %
Specificity for SNVs
 %
Positive predictive value for SNVs
 %
Clinical sensitivity for structural variants
 %
Clinical sensitivity for STRs

CPT Codes

81481443, 81177, 81178, 81179, 81180, 81181, 81182, 81183, 81184, 81185, 81188, 81284, 81343, 81344, 81404, 81405, 81406, 81407, 81408, 81274, 81479

The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Accepted Specimens

Blood

5ml

Saliva

2ml

gDNA

5μg

Turnaround Time

A report will be issued within 4 weeks from receipt of required samples.

Contact Us

Please contact customer service to request a kit.

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