Genomic Unity® Motor Neuron Disorders Analysis
Test Code – NR005
Motor neuron disorders affect the nerves that control the body’s voluntary muscles. These disorders are characterized by progressive muscle weakness and atrophy, spasticity, and overactive tendon reflexes.
Genomic Unity® Motor Neuron Disorders Analysis uses a whole genome sequencing platform to diagnose genetic causes of motor neuron disorders in 116 genes.
When to order
Order this test when clinical symptoms are consistent with motor neuron disorders like amyotrophic lateral sclerosis, hereditary spastic paraplegia, spinal muscular atrophy, or other disorders. 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.
- Sequence analysis of motor neuron disease-associated genes (single nucleotide variants, deletions, insertions, and characterized intronic variants)
- Copy number variant analysis of motor neuron disease-associated genes (duplications/deletions, mobile element insertions, and inversions)
- Short tandem repeat (STR) analysis of motor neuron disorder-associated genes: AR and c9orf72
This test covers many disorders including:
- Autosomal dominant and recessive spastic paraplegia
- Amyotrophic lateral sclerosis
- Spinal and bulbar muscular atrophy (Kennedy disease)
- Spinal muscular atrophy
- Hereditary distal motor neuropathy
- Autotosmal dominant and recessive spastic ataxia
- Some forms of Charcot-Marie-Tooth disease
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
81443, 81173, 81329, 81336, 81403 x2, 814081443, 81204, 81336, 81403, 81404, 81405, 81406, 81407
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.
A report will be issued within 4 weeks from receipt of required samples.