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This panel provides crucial insights into hereditary diseases affecting metabolism, energy regulation, insulin function, and endocrine signaling. The test is designed for early detection, timely intervention, and informed management of a wide range of metabolic disorders.
This test is ideal for individuals with:
Suspected or confirmed inborn errors of metabolism
Early-onset diabetes or endocrine dysfunction
Abnormal metabolic laboratory findings with unclear etiology
Family history of metabolic or endocrine disorders
Clinical signs of hormonal imbalance, growth delays, or chronic fatigue
Unexplained elevations of liver or muscle enzymes
Congenital hyperinsulinism, hypoglycemia, or hyperammonemia
MetabolicCheck+ focuses on genes involved in:
Amino acid metabolism (e.g., ASS1, PAH, BCKDHA, BCKDHB)
Glycogen and carbohydrate processing (e.g., GALT, GCK, AGL)
Mitochondrial energy pathways (e.g., FXN, MT-ND5, GLUD1)
Insulin production and action (e.g., INS, INSR, HNF1A, KCNJ11)
Fatty acid and organic acid metabolism (e.g., HADH, FAH, ATP7B)
Endocrine pancreas development (e.g., PDX1, PTF1A, NEUROD1)
Lysosomal and peroxisomal function (e.g., HEXA, ABCD1, LAMP2)
Genetic regulation of secretion and hormonal feedback (e.g., FOXP3, WFS1, PPARG)
Genes analyzed: 49 selected immunogenetic targets
Technology platform: High-throughput next-generation sequencing (NGS)
Coverage depth: >98% at >20x depth across specific exons and intronic boundaries
Bioinformatics process: Clinically validated with high analytical accuracy; data interpreted according to AMP/ACMG guidelines
Complementary testing: Sanger confirmation or additional assays performed when necessary
Turnaround time: 10 calendar days
MetabolicCheck+ provides clinicians with genetic insights that:
Support the early diagnosis of metabolic and endocrine disorders
Guide personalized treatment plans based on genetic etiology
Enable cascade testing for at-risk family members
Inform preventive screening strategies
Facilitate appropriate therapeutic interventions before complications arise
ABCD1, AGL, ASS1, ATP7B, BCKDHA, BCKDHB, CLCNKB, DYSF, FAH, FXN, GALT, GLA, HEXA, LAMA2, LAMP2, MT-ND5, OTC, PAH, PCCA, PCCB, RAI1,
ABCC8, BLK, EIF2AK3, FOXP3, GATA6, GCK, GLIS3, GLUD1, HADH, HNF1A, HNF1B, HNF4A, INS, INSR, KCNJ11, KLF11, NEUROD1, NEUROG3,
PAX4, PDX1, PPARG, PTF1A, RFX6, SLC16A1, SLC2A2, WFS1, ZFP57
This test is designed to detect all clinically relevant variants within the coding regions of the evaluated genes. Pathogenic and likely pathogenic variants identified in these genes must be confirmed by orthogonal methods. Genetic variants classified as benign, likely benign, or of uncertain significance are not included in this report.
Technical Limitations:
Homopolymeric regions and areas outside the coding regions cannot be captured using standard NGS target enrichment protocols. At this time, the assay does not detect large deletions or duplications. It also cannot identify pathogenic variants located in regions not analyzed (e.g., introns, promoter and enhancer regions, long repeats, or mitochondrial sequences).
This assay is not designed to detect mosaicism, complex genetic rearrangements, or genomic aneuploidy events. It is important to understand that there may be variants in these genes that remain undetectable with current technology. Additionally, there may be genes associated with immunologic pathology whose clinical relevance has not yet been definitively established. Therefore, the test may not detect all variants associated with such pathologies.
Variant Interpretation:
Variant interpretation is based on current knowledge of the genes in this panel and the latest ACMG professional guidelines for germline sequence variant interpretation. Interpretations may change over time as more information becomes available.
Qualified healthcare professionals should consider that future reclassification of genetic variants may occur as ACMG guidelines are updated. Factors influencing the quantity and quality of extracted DNA include, but are not limited to, collection technique, amount of buccal epithelial cells obtained, patient oral hygiene, and the presence of dietary or microbial nucleic acids and nucleases, as well as other interfering substances or matrix-dependent effects.
PCR inhibitors, foreign DNA, and nuclease activity may negatively affect assay performance and results.
This laboratory-developed test (LDT) was designed and its performance characteristics were determined by Genuvi. The test was performed at Genuvi, a laboratory certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high-complexity testing.
This assay has not been cleared or approved by the U.S. Food and Drug Administration (FDA). FDA clearance or approval is not required for the clinical use of this analytically and clinically validated laboratory test. This assay has been developed for clinical purposes only and should not be considered for research use.
Conclusion
MetabolicCheck+ is an essential diagnostic tool for endocrinologists, pediatricians, geneticists, and internal medicine specialists. By identifying variants in critical genes related to metabolism and the endocrine system, this test enables early intervention, optimized treatment, and reduced risk of complex hereditary diseases. With rapid results and clinical interpretation, MetabolicCheck+ enhances precision care in both pediatric and adult populations.
References
Fridovich-Keil JL, Langley SD, Mazur LA, Lennon JC, et al. American Journal of Human Genetics. March 1995. Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family. (PMID: 7887417)
Riehman K, Crews C, Fridovich-Keil JL. The Journal of Biological Chemistry. April 6, 2001. Relationship between genotype, activity, and galactose sensitivity in yeast expressing human galactose-1-phosphate uridyltransferase patient alleles. (PMID: 11152465)
Yang YP, Corley N, Garcia-Heras J. Human Mutation. January 2002. Molecular analysis in Texas newborns affected by galactosemia. (PMID: 11754113)
Christacos NC, Fridovich-Keil JL. Molecular Genetics and Metabolism. August 2002. Impact of patient mutations on heterodimer formation and function in human galactose-1-P uridylyltransferase. (PMID: 12208137)
Dobrowolski SF, Banas RA, Suzow JG, Berkley M, et al. The Journal of Molecular Diagnostics (JMD). February 2003. Analysis of common mutations in the galactose-1-phosphate uridyltransferase gene: new assays to enhance sensitivity and specificity of neonatal galactosemia screening. (PMID: 12552079)
Bosch AM, Ijlst L, Oostheim W, Mulders J, et al. Human Mutation. May 2005. Identification of novel mutations in classical galactosemia. (PMID: 15841485)
Crushell E, Chukwu J, Mayne P, Blatny J, et al. Journal of Inherited Metabolic Disease. June 2009. Negative screening tests in classical galactosemia caused by S135L homozygosity. (PMID: 19418241)
