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Blueprint Genetics Comprehensive Metabolism Panel

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Blueprint Genetics Comprehensive Metabolism Panel Comprehensive Metabolism Panel Test code: ME0701 Is a 476 gene panel that includes assessment of non-coding variants. In addition, it also includes the maternally inherited mitochondrial genome. Is ideal for patients with a clinical suspicion of an inborn error of metabolism. About Comprehensive Metabolism Metabolic disorders often have similar and overlapping symptoms. They may be difficult to subtype without definitive information on the causative mutations and genes. This panel includes well over 400 genes – comprehensive enough to cover the majority of known monogenic metabolic syndromes, deficiencies and diseases. Most phenotypes covered by this panel result from mutations making specific enzymes defective in metabolic pathways. This often results in the accumulation of toxic intermediate products or the loss of specific end products required in metabolic pathways. Additionally, conditions covered by this panel include those with an imbalance in using, storing or converting energy. Most inherited metabolic disorders are quite rare. However, the combined prevalence is estimated at 1:1,000 or 1:2000 newborns. Some specific populations, where the genetic heterogeneity is smaller, may even have much higher numbers. Availability 4 weeks Gene Set Description Genes in the Comprehensive Metabolism Panel and their clinical significance Gene Associated phenotypes Inheritance ClinVar HGMD ABCC8 Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, AD/AR 170 641 Hypoglycemia, leucine-induced, Diabetes mellitus, transient neonatal, Pulmonary arterial hypertension (PAH) ABCD1* Adrenoleukodystrophy XL 95 663 ABCD3 Zellweger syndrome AR 1 3 ABCD4 Methylmalonic aciduria and homocystinuria AR 6 7 ACAD8 Isobutyryl-CoA dehydrogenase deficiency AR 12 21 ACAD9 Acyl-CoA dehydrogenase family, deficiency AR 26 61 ACADL Long chain acyl-CoA dehydrogenase deficiency AD/AR 1 ACADM Acyl-CoA dehydrogenase, medium chain, deficiency AR 104 169 ACADS Acyl-CoA dehydrogenase, short-chain, deficiency AR 43 81 ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency AR 8 12 ACADVL Acyl-CoA dehydrogenase, very long chain, deficiency AR 119 282 ACAT1 Alpha-methylacetoacetic aciduria AR 31 95 https://blueprintgenetics.com/ ACOX1 Peroxisomal acyl-CoA oxidase deficiency AR 15 26 ACSF3 Combined malonic and methylmalonic aciduria AR 18 22 ACY1 Aminoacylase 1 deficiency AR 5 14 ADA Severe combined immunodeficiency due to adenosine deaminase AR 49 93 deficiency ADAMTSL2*,# Geleophysic dysplasia 3 AR 8 28 ADAR Dyschromatosis symmetrica hereditaria, Aicardi-Goutières AD/AR 25 226 syndrome ADCK3 Coenzyme Q10 deficiency, Progressive cerebellar ataxia and AR 45 43 atrophy, Spinocerebellar ataxia ADK Hypermethioninemia due to adenosine kinase deficiency AR 6 14 ADSL Adenylosuccinase deficiency AR 24 57 AGA Aspartylglucosaminuria AR 48 37 AGK* Sengers syndrome, Cataract 38 AR 18 27 AGL Glycogen storage disease AR 142 245 AGPAT2 Lipodystrophy, congenital generalized AR 25 39 AGPS Rhizomelic chondrodysplasia punctata type 3 AR 4 8 AGXT Hyperoxaluria AR 190 205 AHCY Hypermethioninemia with S-adenosylhomocysteine hydrolase AR 3 9 deficiency AKT2 Hypoinsulinemic hypoglycemia with hemihypertrophy AD 4 6 ALAD Porphyria, acute hepatic AR 6 11 ALAS2 Anemia, sideroblastic, Protoporphyria, erythropoietic XL 27 103 ALDH5A1 Succinic semialdehyde dehydrogenase deficiency AR 16 70 ALDH7A1 Epilepsy, pyridoxine-dependent AR 52 123 ALDOA Glycogen storage disease AR 3 8 ALDOB Fructose intolerance, hereditary AR 41 67 ALG1* Congenital disorder of glycosylation AR 25 43 ALG11* Congenital disorder of glycosylation AR 11 14 ALG12 Congenital disorder of glycosylation AR 11 15 ALG13 Congenital disorder of glycosylation XL 5 12 ALG2 Congenital disorder of glycosylation, Myasthenic syndrome, AR 5 5 congenital https://blueprintgenetics.com/ ALG3 Congenital disorder of glycosylation AR 9 18 ALG6 Congenital disorder of glycosylation AR 28 24 ALG8 Congenital disorder of glycosylation AD/AR 10 17 ALG9 Congenital disorder of glycosylation, Gillessen-Kaesbach- AR 4 4 Nishimura syndrome AMACR Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis AR 3 8 defect AMN Megaloblastic anemia-1, Norwegian AR 29 34 AMPD1 Myoadenylate deaminase deficiency AR 5 10 AMT Glycine encephalopathy AR 42 95 ANO10 Spinocerebellar ataxia AR 19 18 ANO5 Gnathodiaphyseal dysplasia, LGMD2L and distal MMD3 muscular AD/AR 64 121 dystrophies ANTXR2 Hyalinosis, infantile systemic, Fibromatosis, juveline hyaline AR 17 47 APRT Adenine phosphoribosyltransferase deficiency AR 11 47 APTX Ataxia, early-onset, with oculomotor apraxia and AR 14 46 hypoalbuminemia ARG1 Hyperargininemia AR 28 54 ARSA Metachromatic leukodystrophy AR 113 246 ARSB Mucopolysaccharidosis (Maroteaux-Lamy) AR 118 201 ASAH1 Spinal muscular atrophy with progressive myoclonic epilepsy, AR 16 71 Farber lipogranulomatosis ASL Argininosuccinic aciduria AR 56 162 ASPA Aspartoacylase deficiency (Canavan disease) AR 54 102 ASS1 Citrullinemia AR 70 153 ATIC AICAR transformylase/IMP cyclohydrolase deficiency AR 2 6 ATP13A2 Parkinson disease (Kufor-Rakeb syndrome) AR 21 40 ATP6V0A2 Cutis laxa, Wrinkly skin syndrome AR 16 56 ATP7B Wilson disease AR 219 897 AUH 3-methylglutaconic aciduria AR 12 11 B3GLCT Peters-plus syndrome AR 9 15 B4GALT1 Congenital disorder of glycosylation AR 1 2 BCKDHA Maple syrup urine disease AR 57 98 https://blueprintgenetics.com/ BCKDHB Maple syrup urine disease AR 87 103 BCS1L Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, AR 42 37 Mitochondrial complex III deficiency, nuclear type 1 BOLA3 Multiple mitochondrial dysfunctions syndrome 2 AR 3 6 BSCL2 Lipodystrophy, congenital generalized, Encephalopathy, AD/AR 34 50 progressive, Neuropathy, distal hereditary motor, type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17 BSND Sensorineural deafness with mild renal dysfunction, Bartter AR 10 20 syndrome BTD Biotinidase deficiency AR 170 247 C10ORF2 Perrault syndrome, Mitochondrial DNA depletion syndrome, AD/AR 37 80 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 C12ORF65 Spastic paraplegia, Combined oxidative phosphorylation AR 10 11 deficiency CA5A Carbonic anhydrase VA deficiency AR 6 7 CACNA1S Hypokalemic periodic paralysis, Malignant hyperthermia, AD 14 47 Thyrotoxic periodic paralysis CASR Hypocalcemia, Neonatal hyperparathyroidism, Familial AD/AR 104 396 Hypocalciuric hypercalcemia with transient Neonatal hyperparathyroidism CAV1 Partial lipodystrophy, congenital cataracts, and neurodegeneration AD/AR 7 11 syndrome, Lipodystrophy, congenital generalized, Pulmonary hypertension, primary 3 CAV3 Creatine phosphokinase, elevated serum, Hypertrophic AD/AR 23 50 cardiomyopathy (HCM), Long QT syndrome, Muscular dystrophy, limb-girdle, type IC, Myopathy, distal, Tateyama type, Rippling muscle disease 2 CBS Homocystinuria due to cystathionine beta-synthase deficiency AR 88 205 CD320 Methylmalonic aciduria due to transcobalamin receptor defect AR 2 CIDEC Lipodystrophy, familial partial, type 5 AR 2 1 CLCN1 Myotonia congenita, Myotonia congenita, Myotonia levior AD/AR 86 313 CLCNKB* Bartter syndrome AR/Digenic 19 119 CLDN16 Hypomagnesemia, renal AR 21 62 CLDN19 Hypomagnesemia, renal AR 7 20 CLN3 Neuronal ceroid lipofuscinosis, type 3 AR 100 72 CLN5 Neuronal ceroid lipofuscinosis, type 5 AR 62 47 CLN6 Neuronal ceroid lipofuscinosis, type 6 AR 41 83 https://blueprintgenetics.com/ CLN8 Neuronal ceroid lipofuscinosis, type 8 AR 45 44 CLPB 3-methylglutaconic aciduria with cataracts, neurologic AR 26 25 involvement, and neutropenia (MEGCANN) CNNM2 Hypomagnesemia, renal, Hypomagnesemia, seizures, and mental AR 5 6 retardation CNNM4 Jalili syndrome AR 11 24 COG1 Congenital disorder of glycosylation AR 4 3 COG4 Congenital disorder of glycosylation AR 12 4 COG5 Congenital disorder of glycosylation AR 4 13 COG6 Congenital disorder of glycosylation, Shaheen syndrome AR 10 9 COG7 Congenital disorder of glycosylation AR 7 5 COG8 Congenital disorder of glycosylation AR 5 7 COL11A2 Weissenbacher-Zweymuller syndrome, Deafness, AD/AR 29 57 Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular) COL2A1 Avascular necrosis of femoral head, Rhegmatogenous retinal AD 180 561 detachment, Epiphyseal dysplasia, with myopia and deafness, Czech dysplasia, Achondrogenesis type 2, Platyspondylic dysplasia Torrance type, Hypochondrogenesis, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Kniest dysplasia, Spondyloperipheral dysplasia, Mild SED with premature onset arthrosis, SED with metatarsal shortening, Stickler syndrome type 1 COQ2 Coenzyme Q10 deficiency AR 16 31 COQ4 Coenzyme Q10 deficiency 7 AR 14 13 COQ5 Coenzyme Q10 deficiency AR 1 2 COQ6 Coenzyme Q10 deficiency AR 14 15 COQ7 Coenzyme Q10 deficiency, primary 8 AR 1 2 COQ9 Coenzyme Q10 deficiency AR 2 5 CPOX Coproporphyria, Harderoporphyria AD/AR 15 70 CPS1 Carbamoylphosphate synthetase I deficiency AR 61 269 CPT1A Carnitine palmitoyltransferase deficiency AR 60 51 CPT2 Carnitine palmitoyltransferase II deficiency AR 72 111 CTH Cystathioninuria AR 5 9 CTNS Cystinosis AR 76 148 CTSA Galactosialidosis AR 17 38 https://blueprintgenetics.com/ CTSC Periodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre AR 19 92 syndrome CTSD Ceroid lipofuscinosis, neuronal AR 12 18 CTSK Pycnodysostosis AR 35 58 CUBN* Megaloblastic anemia-1, Finnish AR 42 53 D2HGDH D-2-hydroxyglutaric aciduria 1 AR 13 33 DBT Maple syrup urine disease
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