ACAD9, ACADM, ACADS, ACADVL, ACAT1, AGL, ALDOA, ALDOB, CPT1A, CPT2, DECR1, ENO3, ETFA, ETFB, ETFDH, FBP1, G6PC, GAA, GBE1, GLUD1, GYS1, GYS2, HADH, HADHA, HADHB, HMGCL, HSD17B10, LAMP2, LPIN1, MLYCD, MPI, NADK2, OXCT1, PC, PCK1, PCK2, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PPARG, PRKAG2, PYGL, PYGM, SLC22A5, SLC25A20, SLC2A2, SLC37A4, SLC52A2, SLC52A3, TANGO2, TAZ
The Metaboseq panel is designed for patients with unexplained hypoglycemia, rhabdomyolysis, and other features of an inborn error of metabolism such as metabolic hypoglycemia, liver dysfunction, rhabdomyolysis, or cardiomyopathy syndromes. The panel includes genes associated with glycogen storage disorders, fatty acid oxidation disorders, and a number of other conditions that can present in a similar manner.
• Unexplained hypoglycemia
• Rhabdomyolysis and skeletal myopathy
• Metabolic acidosis
• Hepatomegaly, liver dysfunction and cirrhosis
• Hypotonia, muscle cramps/ pain
• Cardiomyopathy/ arrhythmias
• Respiratory distress
• Hepatic encephalopathy
• Growth retardation
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 2017.3) 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.
Sensitivity and Limitations
The analytical sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed. Variants in regulatory regions and non-reported variants in untranslated regions may not be detected by this test. Large deletions/ duplications, large insertions and other complex genetic events will not be identified using sequencing methodology.
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Download Inborn Errors of Metabolism requisition
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