Congenital Hypotonia Xpanded® Panel
Use
The Congenital Hypotonia Xpanded® Panel applies trio-based genomic sequencing (affected individual plus both parents, when available) utilizing exome capture, next-generation sequencing (NGS), and targeted analysis across a dynamic and regularly updated list of over 1400 genes associated with congenital hypotonia. It addresses the high genetic heterogeneity of congenital hypotonia—ranging from central to peripheral causes—and improves diagnostic yield by incorporating parental testing to clarify de novo versus inherited variants. This test is especially useful when gene discovery is ongoing and broader testing is required to identify monogenic etiologies in neonates with hypotonia.
Special Instructions
This test uses a comprehensive trio approach; if both parents are not available, prior approval from GeneDx is required. It leverages a dynamic gene list of 1400+ genes that is regularly updated to include newly associated genes to maximize yield in congenital hypotonia diagnostics.
Limitations
As an exome-based NGS panel limited to targeted analysis, this test may not detect deep intronic, promoter, structural, or non-coding variants outside the captured regions. Interpretation may be complicated by variants of uncertain significance; parental testing is critical to clarify inheritance. Rare or newly discovered genes not yet associated with hypotonia may not be included despite updates.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Buccal Swab
Volume
Not provided
Minimum Volume
Not provided