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!
What is your turnaround time for testing?
We offer same day turnaround time for PCR tests. Toxicology tests will be resulted in 24-36 hours, depending upon targets requested.
Where are you located and how can I sign-up for testing?
We have multiple testing locations across the country. You can book here on our website by selecting your desired testing location.
Do you take insurance?
Most insurances are accepted, but must have doctor’s orders to use insurance. Cash pay rates are available, please contact us for a quote.
How do I receive my results?
Secure results are sent by email or through your provider portal, and can also be shared directly with your referring physician.
