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Updated Ataxia and Movement Disorder Testing Leverages Combined Short- and Long-Read Sequencing to Analyze Additional Genes
- By Variantyx
- Posted in New & Updated Tests
We are excited to announce major enhancements to our Genomic Unity® Comprehensive Ataxia Analysis, Genomic Unity® Ataxia Repeat Expansion Analysis, and Genomic Unity® Movement Disorders Analysis tests.
These updates expand our gene targets and include leveraging long-read sequencing technology to expand our detection capabilities:
- Actionable & Treatable Genes Added: We have incorporated key genes with direct therapeutic and clinical implications (e.g., APOB, MTTP, ANGPTL3, COQ2, COQ4) enabling tailored medical management and counseling.
- Long-Read Sequencing Capabilities Expand STR Coverage: Our advanced sequencing platforms now capture additional repeat expansion genes (BEAN1, DAB1, SAMD12, PRNP) that traditional short-read sequencing tests miss.
- Full Mitochondrial Genome Analysis Added: Genomic Unity® Movement Disorders Analysis now includes comprehensive mitochondrial genome analysis (SNVs, indels with heteroplasmy ≥5%, and large deletions).
As always, our Whole Genome Sequencing (WGS) backbone detects small sequence variants, structural variants (SVs), mitochondrial variants, and repeat expansions in a single, unified workflow, delivering superior diagnostic yield where exome and gene panel approaches fall short.
Summary of testing updates:
Test Name | Gene Count | Added Capabilities & Genes | Additive Value |
73 (formerly 55) | New SSC & SV Genes: ANGPTL3, APOB, COQ2, COQ4, GRN, NPC1, NPC2, NPTX1, RAB3A, MTTP, SLC19A2, SLC19A3, SPG7, TCN2, TPK1 New STRs: BEAN1, DAB1, PRNP | ||
20 (formerly 17) | New STRs: BEAN1, DAB1, PRNP | ||
251 (formerly 238) | New SSC & SV Genes: ANGPTL3, APOB, GNAL, GRN, NPTX1, SLC19A2, TCN2, TMEM151A, XK New STRs: BEAN1, DAB1, SAMD12, PRNP Full Mitochondrial Genome Analysis | FAME1 related repeat expansion in SAMD12 mimics essential tremor which can precede seizure onset and impact clinical management and proactive treatment strategies (PMID: 37371086, 38059543, 38961870). There is growing clinical evidence of the association between movement disorders and mitochondrial disease (PMID: 34065803, 34259909, 40883955). |
