Test catalog
NeoPainel Iron-Fatty Liver Phenotype
This panel analyzes genes associated with the iron overload and fatty liver disease phenotype (Iron-Fatty Liver Phenotype), including genes related to hereditary hemochromatosis, iron metabolism, non-alcoholic fatty liver disease (NAFLD/NASH) and other conditions that affect hepatic iron and lipid metabolism.
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Turnaround time and when it starts
- Standard · 30 calendar days, after acceptance of the sample Fast · 15 calendar days, after acceptance of the sample
- Medical order
- Required. View requirements and limitations.
Test information
Technical details for NeoPainel Iron-Fatty Liver Phenotype
Method, scope, requirements and limitations
This panel analyzes genes associated with the iron overload and fatty liver disease phenotype (Iron-Fatty Liver Phenotype), including genes related to hereditary hemochromatosis, iron metabolism, non-alcoholic fatty liver disease (NAFLD/NASH) and other conditions that affect hepatic iron and lipid metabolism.
- Applications
- Rare and hereditary diseases
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Estimated turnaround time
- Standard · 30 calendar days, after acceptance of the sample Fast · 15 calendar days, after acceptance of the sample
- Sequencing method
- Next-generation exome sequencing (NGS), with analysis targeted to the panel’s genes.
- Analytical scope
- Genotyping of 10 SNP loci in PNPLA3, TM6SF2, MBOAT7, GCKR, HSD17B13, MTARC1, HFE (C282Y and H63D), SERPINA1 (PI*Z and PI*S) and HP (two loci), and analysis of rare variants in the HAMP, HJV, TFR2, SLC40A1, MTTP and APOB genes.
- Genes analyzed
-
15 genes analyzed.
See full content
APOB, GCKR, HAMP, HFE, HJV, HP, HSD17B13, MBOAT7, MTARC1, MTTP, PNPLA3, SERPINA1, SLC40A1, TFR2, TM6SF2
- Medical order
- Required
Requirements
A medical order and sufficient clinical information to guide the analysis.
Limitations
The result depends on sample quality, achieved coverage and the method’s limitations. Variants outside the validated scope may not be detected.
Additional information
The gene list, scope and turnaround times reflect the current revision. Interpretation should take clinical information and, when indicated, genetic counseling into account.
