Genomic Unity® Movement Disorders Analysis

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® Whole Genome 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)

Optionally includes:

Included Genes

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

Short tandem repeats:

Due to the variable nature of repetitive sequences and sequence-specific differences in detection and repeat evaluation, orthogonal confirmation is performed on a case-by-case basis. Reportable pathogenic or intermediate repeat expansions may be reported with or without repeat count.

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

Variantyx Blood

Blood

5ml

Variantyx Saliva

Saliva

2ml

Variantyx DNA

gDNA

5μg

Turn Around 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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