|Cholestasis Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
||Confirmation of Clinical Diagnosis, Carrier Testing, Differential Diagnosis
Seven nuclear encoded genes involved in cholestasis and liver dysfunction are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation Sequence (NGS) technology. The ABCB4 (#3315), ABCB11 (#3310), AKR1D1 (#29110), ATP8B1 (#3305), JAG1 (#3755), SERPINA1 (#29105) and SLC25A13 (#3155) genes are analyzed by this panel. Sanger sequencing of these genes is also available using the associated individual test codes.
All coding exons of these 7 nuclear genes and at least 20 base pairs of flanking intronic sequences are analyzed. All exonic variants and intronic variants within 20 bp of the exon/intron boundary will be reported. Sequence analysis will not detect genomic structural rearrangements (e.g. heterozygous deletions, duplications, and inversions), large heterozygous insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants detected by NGS are confirmed by Sanger sequencing.
Mitomet deletion/duplication analysis (#2003) for the genes covered by this panel is also available.
||Targeted Capture followed by Massively Parallel Sequencing
||ABCB4, ABCB11, AKR1D1, ATP8B1, JAG1, SERPINA1, SLC25A13