MetabolicCheck+ is a next-generation sequencing (NGS)-based genetic test that evaluates variants in 49 genes associated with metabolic and endocrine function. This panel provides critical insights into hereditary conditions affecting metabolism, energy regulation, insulin function, and endocrine signaling. The test is designed for early detection, timely intervention, and informed management of a broad 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 hormone imbalance, growth delays, or chronic fatigue
* Unexplained liver or muscle enzyme elevations
* 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 hormone secretion and feedback (e.g., FOXP3, WFS1, PPARG)
* Genes Analyzed: 49 curated immunogenetics targets
*Technology Platform: High-throughput Next-Generation Sequencing (NGS)
* Depth of Coverage: >98% at >20x depth across targeted exons and intronic boundaries
*Bioinformatics Pipeline: Validated with clinical-grade precision; data interpreted using AMP/ACMG guidelines
*Supplemental Testing: Sanger confirmation or additional assays when required
*Turnaround Time: 10 calendar days
MetabolicCheck+ empowers clinicians with genetic insights that:
* Support early diagnosis of metabolic and endocrine disorders
* Guide personalized treatment plans based on genetic etiology
* Enable cascade testing for at-risk family members
* Inform preventative screening strategies
* Facilitate appropriate therapeutic interventions before complications arise
TheComprehensive Metabolic Panel is designed to detect single nucleotide variants(SNVs) and small insertions and deletions in 49 genes associated with immunological disorder risk. Targeted regions for this panel include the coding exons and 10 bp intronic sequences immediate to the exon-intron boundary of each coding exon in each of these genes. Extracted patient DNA is prepared using targeted hybrid capture, assignment of a unique index, and sequencing via Illumina sequencing by synthesis (SBS) technology.Data is aligned using human genome build GRCh37. Variant interpretation is performed according to currentAmerican College ofMedical Genetics and Genomics (ACMG) professional guidelines for the interpretation of germline sequence variants using FabricEnterpriseTMPipeline 6.6.15. Variant interpretation and reporting is performed by FabricClinical (CLIA ID: 45D2281059 and CAP ID:9619501)), located at 6901 QuakerAvenue, Suite A, Lubbock, Texas, 79413. The following quality filters are applied to all variants:quality <500, allelic balance <0.3, coverage<10x.
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 aims to detect all clinically relevant variants within the coding regions of the genes evaluated. Pathogenic and likely pathogenic variants detected in these genes should be confirmed by orthogonal methods. Detected genetic variants classified as benign, likely benign, or of uncertain significance are not included in this report. Homopolymer regions and regions outside of the coding regions cannot be captured by the standard NGS target enrichment protocols. At this time, the assay does not detect large deletions and duplications. This analysis also cannot detect pathogenic variants within regions which were not analyzed (e.g., introns, promoter and enhancer regions, long repeat regions, and mitochondrial sequence). This assay is not designed to detect mosaicism and is not designed to detect complex gene rearrangements or genomic aneuploidy events. It is important to understand that there may be variants in these genes undetectable using current technology. Additionally, there may be genes associated with immunological pathology whose clinical association has not yet been definitively established. The test may therefore not detect all variants associated with immunological pathology. The interpretation of variants is based on our current understanding of the genes in this panel and is based on current ACMG professional guidelines for the interpretation of germline sequence variants.Interpretations may change overtime as more information about the genes in this panel becomes available.Qualified health care providers should be aware that future reclassifications of genetic variants can occur as ACMG guidelines are updated. Factors influencing the quantity and quality of extracted DNA include, but are not limited to, collection technique, the amount of buccal epithelial cells obtained, the patient’s oral hygiene, and the presence of dietary or microbial sources of nucleic acids and nucleases, as well as other interfering substances and matrix-dependent influences. PCR inhibitors, extraneous DNA, and nucleic acid degrading enzymes may adversely affect assay results.
This laboratory developed test (LDT) was developed and its performance characteristics were determined by PreCheck HealthServices, Inc. This test was performed at PreCheck Health Services, Inc. (CLIA ID: 10D2210020 and CAP ID:9101993) that is 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).Clearance or approval by the FDA is not required for the clinical use of this analytically and clinically validated laboratory developed test. This assay has been developed for clinical purposes and it should not be regarded as investigational or for research.
MetabolicCheck+ is an essential diagnostic tool for endocrinologists, pediatricians, geneticists, and internal medicine specialists. By identifying variants in critical metabolic and endocrine-related genes, this test enables early intervention, optimized treatment, and risk reduction for complex hereditary conditions. With rapid turnaround and clinical-grade interpretation, MetabolicCheck+ enhances precision care in both pediatric and adult populations.
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