Genetics Comprehensive
Metabolism Panel
Early detection for better management of metabolic disorders
GenviewDx laboratory’s Comprehensive Metabolism-associated gene panel consists of 199 genes and mutations found in these genes are known to be involved in various monogenetic metabolic disorders in patients. Identifi cation of causative mutations helps timely treatment. Specifi cally, these gene mutations produce non-functional enzymes in key metabolic pathways of energy usage, storage and converting branches. As a result of these non-functional enzymes, metabolic intermediate toxic products accumulate in patients and cause various metabolic syndromes.
Although inherited metabolic disorders are rare events, the combined prevalence is estimated at 1:1000 to 1:2000 newborns with common symptoms including poor feeding, irregular appetite, lethargy, jaundice, digestive problems, irregular weight regulation, seizures, developmental delays, and abdominal pain. In addition, there are non-specifi c warning signs such as high blood pressure, high cholesterol, and high triglyceride levels. For example, glycogen storage disease, Parkinson disease, muscular dystrophy, maple syrup urine disease, myopathy, tyrosinemia, lipid storage disease, cerebral folate defi ciency, alkaptonuria are a few of the diseases revealed by the GenviewDx’s comprehensive metabolic genetic panel test. Therefore, this comprehensive metabolism genetic test panel is recommended for anyone with the associated symptoms or personal or family history of metabolic disorders. The wide range of conditions covered in this panel makes it ideal for individuals with broad symptoms that could be linked to one of many different disorders.
Since some of the symptoms can also be a result of unrelated physiological disorders, this genetic test helps: a) confi rm or rule out the diagnosis with specifi c gene mutation, b) personalized treatment options, c) indicate the risk factors for family members, d) identify risks for other diseases and plan for prophylaxis treatment options.
| Description | Genes |
|---|---|
| IDH2 (isocitrate dehydrogenase 2 [NADP+], mitochondrial) (eg, glioma), common variants (eg, R140W, R172M) | IDH2 |
| CACNA1A (calcium voltage-gated channel subunit alpha1 A) (eg, spinocerebellar ataxia) gene analysis; full gene sequence | CACNA1A |
| CSTB (cystatin B) (eg, Unverricht-Lundborg disease) gene analysis; full gene sequence | CSTB |
| ASPA (aspartoacylase) (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X) | ASPA |
| BCKDHB (branched-chain keto acid dehydrogenase E1, beta polypeptide) (eg, maple syrup urine disease) gene analysis, common variants (eg, R183P, G278S, E422X) | BCKDHB |
| CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; full gene sequence | CFTR |
| DPYD (dihydropyrimidine dehydrogenase) (eg, 5-fluorouracil/5-FU and capecitabine drug metabolism), gene analysis, common variant(s) (eg, *2A, *4, *5, *6) | DPYD |
| F9 (coagulation factor IX) (eg, hemophilia B), full gene sequence | F9 |
| G6PD (glucose-6-phosphate dehydrogenase) (eg, hemolytic anemia, jaundice), gene analysis; full gene sequence | G6PD |
| G6PC (glucose-6-phosphatase, catalytic subunit) (eg, glycogen storage disease, type 1a, von Gierke disease) gene analysis, common variants (eg, R83C, Q347X) | G6PC |
| GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A) | GBA |
| HEXA (hexosaminidase A [alpha polypeptide]) (eg, Tay-Sachs disease) gene analysis, common variants (eg, 1278insTATC, 1421+1G>C, G269S) | HEXA |
| HFE (hemochromatosis) (eg, hereditary hemochromatosis) gene analysis, common variants (eg, C282Y, H63D) | HFE |
| MCOLN1 (mucolipin 1) (eg, mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb) | MCOLN1 |
| MTHFR (5,10-methylenetetrahydrofolate reductase) (eg, hereditary hypercoagulability) gene analysis, common variants (eg, 677T, 1298C) | MTHFR |
| MECP2 (methyl CpG binding protein 2) (eg, Rett syndrome) gene analysis; full sequence analysis | MECP2 |
| SLCO1B1 (solute carrier organic anion transporter family, member 1B1) (eg, adverse drug reaction), gene analysis, common variant(s) (eg, *5) | SLCO1B1 |
| SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal) (eg, Niemann-Pick disease, type A) gene analysis, common variants (eg, R496L, L302P, fsP330) | SMPD1 |
| SERPINA1 (serpin peptidase inhibitor, clade A, alpha-1 antiproteinase, antitrypsin, member 1) (eg, alpha-1-antitrypsin deficiency), gene analysis, common variants (eg, *S and *Z) | SERPINA1 |
| TPMT (thiopurine S-methyltransferase) (eg, drug metabolism), gene analysis, common variants (eg, *2, *3) | TPMT |
| UGT1A1 (UDP glucuronosyltransferase 1 family, polypeptide A1) (eg, drug metabolism, hereditary unconjugated hyperbilirubinemia [Gilbert syndrome]) gene analysis, common variants (eg, *28, *36, *37) | UGT1A1 |
| MoPath procedure level 1 | ACADM, LCT |
| MoPath procedure level 2 | APOE, PPARG |
| MoPath procedure level 5 | BTD, MMACHC, SLC25A4 |
| MoPath procedure level 6 | ABCD1, ACADS, ARSA, BCKDHA, COX10, COX15, CPOX, DGUOK, DHCR7, FH, GLA, IDS, MMAB, MMAA, OTC, SLC22A5, SLC25A20, SLC2A1, SURF1, TYMP |
| MoPath procedure level 7 | ACADVL, ASS1, ATP7B, BSCL2, CBS, CLCNKB, CPT1A, DLD, FAH, GAA, GALT, GALC, GLUD1, GCDH, GCK, GNE, HADHA, HADHB, MCCC1, MCCC2, MUT, PAH, PCCA, PC, PCCB, PDHA1, PDHX, POLG, PRKAG2, PYGM |
| MoPath procedure level 8 | SLC12A3 |
| Unlisted MoPath procedure | ABCA1, ABCB4, ABCC2, ABCD3, ABCD4, ABCG5, ABCG8, ACACA, GALNS, GAMT, GATM, GBE1, GYS1, GYS2, HADH, HMGCL, HPRT1, HSD17B10, HYAL1, LIPA, LPL, MAN2B1, ISCU, MMADHC, NAGA, NAGLU, NHEG1, PCK1, PCK2, PEPD, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHKA1, PHKA2, PHKB, PHKG1, PHKG2, PHYH, PRPS1, PTS, PYGL, QDPR, RBCK1, RFT1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SEC23B, SGSH, SLC16A1, SLC17A5, SLC25A13, SLC25A15, SLC25A26, SLC2A2, SLC30A10, SLC35A1, SLC35A2, SLC35C1, SLC39A4, SLC3A1, SLC40A1, SLC41A2, SLC41A3, SLC46A1, SLC5A1, SLC6A19, SLC6A8, SLC6A9, SLC7A7, SSR4, STT3A, STT3B, SUCLA2, SUCLG1, SUOX, TALDO1, TAT, TBC1D4, TCN2, TFR2, TIMM8A, TMEM126A, TMEM165, TNPO3, TMEM70, TPP1, TREX1, TRIM32, TRIM37, TRMU, TRPM6, TRPM7, TSFM, TTC19, TUFM, TUSC3, UMPS, UCP2, UPB1, UQCRB, UQCRQ, UROD, UROS, WFS1, XDH, YARS2, ZMPSTE24 |
Important Questions
Frequently Asked Questions
Have a question? You might find the answer below in our FAQs!
Who can use Simplicity Diagnostics?
Simplicity Diagnostics works with physicians, medical practices, clinics, hospitals, and other healthcare organizations.
How do I become a provider?
Getting started is simple. Complete our Become a Provider form, and our team will contact you to help with enrollment and next steps.
What types of testing do you offer?
We offer a range of diagnostic and specialty testing, including genetic and genomic testing, pharmacogenomics (PGx), oncology-related testing, metabolic testing, immunology, toxicology, and other specialty laboratory services.
How quickly will we receive results?
Many tests have a typical turnaround time of 24–48 hours, although turnaround times vary depending on the specific test and specimen requirements.
How do I order a test?
Once your practice is set up as a provider, our team will provide the information and resources needed to order testing and submit specimens.
How are test results delivered?
Test results are delivered securely through our provider workflow. Our team can help your practice understand the process and access results.
Can your team help our office choose the right test?
Yes. If your practice has questions about test selection, specimen requirements, ordering, or other laboratory-related needs, our provider support team is available to assist.
What specimen types do you accept?
Specimen requirements vary by test. Please refer to the specific test information or contact our provider support team before collecting or shipping a specimen.
Do you work with insurance?
Insurance coverage and patient responsibility can vary by test, patient, and plan. Our team can provide information about the billing process and available options.
Can I speak with someone about setting up my practice?
Absolutely. Contact our team and we can walk your practice through the process of becoming a Simplicity Diagnostics provider.
Why should my practice choose Simplicity Diagnostics?
We focus on making laboratory testing simple for healthcare providers through reliable testing, fast turnaround times, a broad test menu, and responsive provider support.
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