Microcephaly Xpanded® Panel
Use
This targeted genomic panel evaluates over 800 genes associated with microcephaly and related neurodevelopmental conditions, recognizing that approximately 15–50 % of individuals with microcephaly have a genetic etiology with inheritance patterns including autosomal dominant, autosomal recessive, or X‑linked causes ([providers.genedx.com](https://providers.genedx.com/Resources/TIS-Files/TIS-J511.pdf?utm_source=openai)). The panel is designed to leverage a trio‑based testing approach (proband plus parental samples preferred) to enhance the detection of de novo and inherited variants ([genedx.com](https://www.genedx.com/wp-content/uploads/2024/11/90999-Neuro-TRF-v241029.pdf?utm_source=openai)).
Special Instructions
Orderable under test code J511, this panel is part of the Neurology test menu and is optimized when family member (trio) specimens are submitted along with the proband’s; a separate Family Member Testing test code exists (J513) for use when relatives are tested separately ([genedx.com](https://www.genedx.com/wp-content/uploads/2024/11/90999-Neuro-TRF-v241029.pdf?utm_source=openai)).
Limitations
Specific technical limitations, including genes with poor coverage or regions challenging for sequencing or deletion/duplication detection, are provided in the technical limitations section of the most current test menu or requisition form. GeneDx may update gene content or panel performance characteristics over time; users should reference the latest information available on the GeneDx website ([genedx.com](https://www.genedx.com/wp-content/uploads/2024/11/90999-Neuro-TRF-v241029.pdf?utm_source=openai)).
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided