Genomic Unity® Ataxia Repeat Expansion Analysis
Genomic Unity® Ataxia Repeat Expansion Analysis is a diagnostic test designed to identify repeat expansion variants that cause ataxia, with or without other symptoms.
- Test Description
- When to Order
- Included Genes
- Included Analyses
- Turnaround Time
- Sample Types
- CPT Codes
- Methods and Limitations
Test Description
Genomic Unity® Ataxia Repeat Expansion Analysis is a targeted test that uses a whole genome platform to detect all major clinically relevant variant types from a single sample. This targeted test focuses on 17 ataxia tandem repeat genes.
Genomic Unity® Ataxia Repeat Expansion Analysis provides a single, unified clinical report that replaces a battery of tests including: targeted gene panel, single gene analysis and multiplex ligation dependent probe amplification (MLPA), as well as PCR and southern blot tests for short tandem repeat expansions.
When to Order
Order this test when clinical symptoms are consistent with ataxia disorder.
Included Genes
ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, CACNA1A, FGF14, FMR1, FXN, GLS, NOP56, PPP2R2B, RFC1, TBP, ZFHX3
Included Analyses
- Sequence analysis of ataxia tandem repeat genes including: single nucleotide variants, deletions, insertions, and characterized intronic variants.
- Copy number variant analysis of ataxia tandem repeat genes including: duplications/deletions, mobile element insertions, and inversions.
- Short tandem repeat (STR) analysis of the ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8OS, ATXN10, CACNA1A, FGF14, FMR1, FXN, GLS, NOP56, PPP2R2B, RFC1, TBP, and ZFHX3 genes. (Learn more).
Optionally includes:
- Reflex to Genomic Unity® Exome Analysis, Genomic Unity® Exome Plus Analysis, or Genomic Unity® Whole Genome Analysis.
- Genomic Unity® Pharmacogenomics Analysis.
Turnaround Time
A report will be issued within 4 weeks from receipt of required samples.
Sample Types
-
Blood5ml – Specimen requirements
-
Saliva
2ml – Specimen requirements
-
gDNA
5μg – Specimen requirements
CPT Codes
0216U
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.
Methods and Limitations
Genomic Unity® Ataxia Repeat Expansion Analysis uses a PCR-free whole genome sequencing (WGS) platform paired with our Genomic Intelligence® analytical software.
SNVs:
99.9% sensitivity
99.9% specificity
99.8% positive predictive value
Structural variants:
96% clinical sensitivity
Short tandem repeats:
The false negative rate for repeat expansions has not been determined.
Test limitations:
The ATXN7 gene is not fully covered by this test, therefore not all pathogenic variants may be detected.