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 12 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, FXN, NOP56, PPP2R2B, and TBP genes
This test covers many disorders including:
- Congenital hypotonia, epilepsy, developmental delay, and digital anomalies
- 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
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, 81177, 81178, 81179, 81180, 81181, 81182, 81183, 81184, 81185, 81284, 81286, 81343, 81344, 81404, 81405, 81406, 81407, 81408
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.
Turn Around Time
A report will be issued within 4 weeks from receipt of required samples.