Genomic Unity® Ataxia Repeat Expansion Analysis
Test Code – NR003
Ataxias are a group of neurological conditions most often related to degeneration of the cerebellum, the part of the brain that coordinates movement. Ataxias can affect different parts of the body, speech, eye movements, and balance.
Genomic Unity® Ataxia Repeat Expansion Analysis uses a whole genome sequencing platform to diagnose genetic causes of ataxia due to tandem repeat expansions in 13 genes. For a broader analysis of ataxia-related genes beyond this repeat expansion analysis, consider the Genomic Unity® Comprehensive Ataxia Analysis.
- Sequence analysis of ataxia tandem repeat genes (single nucleotide variants, deletions, insertions, and characterized intronic variants)
- Copy number variant analysis of ataxia tandem repeat genes (duplications/deletions, mobile element insertions, and inversions)
- Short tandem repeat (STR) analysis of the ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FMR1, FXN, NOP56, PPP2R2B, and TBP genes
This test covers many disorders including:
- Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- Fragile X–associated tremor/ataxia syndrome
- Dentatorubral-pallidoluysian atrophy
- Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 2
- Spinocerebellar ataxia type 7
- Spinocerebellar ataxia type 8
- Spinocerebellar ataxia type 10
- inocerebellar ataxia type 12
- Spinocerebellar ataxia type 17
- Spinocerebellar ataxia type 36
- Episodic ataxia type 2
- Developmental and epileptic encephalopathy type 42
- Machado-Joseph disease
- Friedreich’s ataxia
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.