Test Code: PNL299
Incontinentia Pigmenti
Rare diseases
Incontinentia Pigmenti (IP) is an X-linked dominant disorder caused by pathogenic variants in the IKBKG gene (also known as NEMO). Diagnostic testing is recommended for individuals with characteristic skin findings (vesicular, verrucous, or hyperpigmented stages), dental anomalies, alopecia, or neurological involvement. Testing options include deletion/duplication analysis by MLPA and and reflexed to sequencing of the IKBKG gene.
Sample Type
Blood, Amniotic Fluid, Chorionic Villus Sampling
Turnaround Time
3-4 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
1 genes
IKBKG
Methodology
Capture-based target enrichment and Next Generation Sequencing.
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