Liver Disease Panel by Next-Generation Sequencing
ABCB11, ABCB4, ABCC12, ABCC2, ABCD3, ABCG5, ABCG8, AKR1D1, ALDOB, AMACR, ATP7B, ATP8B1, BAAT, CC2D2A, CFTR, CLDN1, CYP27A1, CYP7A1, CYP7B1, DCDC2, DGUOK, DHCR7, EHHADH, EPHX1, FAH, GPBAR1, HNF1A, HNF1B, HSD17B4, HSD3B7, INVS, JAG1, LIPA, MKS1, MPV17, MYO5B, NEUROG3, NOTCH2*, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, POLG, SCP2, SERPINA1, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, TJP2, TMEM216, TRMU, UGT1A1, VIPAS39, VPS33B
*excluding exons 1, 2, and 4 in NOTCH2 due to high homologous regions
The Liver Disease Panel is designed to diagnose the most common genetic causes of hereditary liver disease. Inherited liver disease can present with clinical features including bile acid synthesis defects, cholestasis, and jaundice. Hereditary liver disease is caused by variants in many different genes, and may be inherited in an autosomal dominant or autosomal recessive manner.
Chronic liver disease in children and adults
- Cholestasis of unknown etiology with overlapping clinical symptoms
- Screening for Alagille ayndrome
- Screening for progressive familial intrahepatic cholestasis (PFIC)
- Bile acid synthesis defects
This test is performed by enrichment of the coding exons, flanking intronic and untranslated regions (5’ and 3’), as well as known pathogenic variants (HGMD 2018.1) in the promoter and deep intronic regions of the genes specified above using oligonucleotide probe hybridization followed by next-generation sequencing with >50X coverage at every target base. All pathogenic and novel variants, as well as variants of unknown (indeterminate) significance, as determined bioinformatically, are confirmed by Sanger sequencing. Regions with <50X will be filled in by Sanger sequencing. A detailed non-coding variant list is available upon request.
Analytical Sensitivity: The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed. Exons 1, 2, and 4 of the NOTCH2 gene are not covered by this test due to high homologous regions.
Limitations: Variants in regulatory regions and non-reported variants in untranslated regions may not be detected by this test. Large deletions involving entire single exons or multiple exons, large insertions and other complex genetic events will not be identified using NGS methodology. Rare primer site variants may lead to erroneous results.
How to Order
Download Heritable Liver Disease requisition. Single gene sequencing and targeted variant analysis is also available for all genes in the Liver Disease Panel. Deletion / Duplication analysis is also available for many of the genes on this panel. Learn more about genes available for deletion / duplication analysis.
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