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
Other tests from different labs that may be relevant