Comprehensive Metabolism Panel

SEQmethod-seq-icon Our Sequence Analysis is based on a proprietary targeted sequencing method OS-Seq™ and offers panels targeted for genes associated with certain phenotypes. A standard way to analyze NGS data for finding the genetic cause for Mendelian disorders. Results in 21 days. DEL/DUPmethod-dup-icon Targeted Del/Dup (CNV) analysis is used to detect bigger disease causing deletions or duplications from the disease-associated genes. Results in 21 days. PLUSmethod-plus-icon Plus Analysis combines Sequence + Del/Dup (CNV) Analysis providing increased diagnostic yield in certain clinical conditions, where the underlying genetic defect may be detectable by either of the analysis methods. Results in 21 days.

Test code: ME0701

The Blueprint Genetics Comprehensive Metabolism Panel is a 354 gene test for genetic diagnostics of patients with clinical suspicion of inborn error of metabolism.

Most inborn errors of metabolism are inherited in autosomal recessive manner. However, also autosomal dominant as well as X-linked types of inheritance are possible. This Panel includes Aicardi-Goutieres Syndrome Panel, Coenzyme q10 Deficiency Panel, Congenital and Familial Lipodystrophy Panel, Congenital Disorders of Glycosylation Panel, Creatine Metabolism Deficiency Panel, Cystinuria Panel, Fatty Acid Oxidation Syndrome Panel, Glucogen Storage Disorder Panel, Hereditary Hemochromatosis Panel, Hyperammonemia and Urea Cycle Disorder Panel, Hypoglycemia, Hyperinsulinism and Ketone Metabolism Panel, Hyperphenylalaninemia Panel, Hypomagnesemia Panel, Lysosomal Disorders and Mucopolysaccharidosis Panel, Metabolic Myopathy and Rhabdomyolysis Panel, Mitochondrial DNA Depletion Syndrome Panel, Organic Acidemia and Acidurina and Cobalamin Deficiency Panel, Periodic Paralysis Panel, Peroxisomal Disorder Panel and Porphyria Panel.

About Metabolic Diseases

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 300 genes - comprehensively enough to cover most of all known monogenic metabolic syndromes, deficiencies and diseases. Most phenotypes covered by this Panel result from mutations making specific enzymes defective in metabolic pathways. This results often in an accumulation of toxic intermediate products or loss of specific end products required in metabolic pathways. Additionally, conditions covered include those with imbalance in using, storing or converting energy.

Most inherited metabolic disorders are quite rare. However, considering them all together, the combined prevalence is estimated at 1:1000 or 1:2000 newborns. Some specific populations, where the genetic heterogeneity is smaller, may even have much higher numbers.


Results in 3-4 weeks. We do not offer a maternal cell contamination (MCC) test at the moment. We offer prenatal testing only for cases where the maternal cell contamination studies (MCC) are done by a local genetic laboratory. Read more.

Genes in the Comprehensive Metabolism Panel and their clinical significance
GeneAssociated phenotypesInheritanceClinVarHGMD
ABCC8Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Hypoglycemia, leucine-induced, Diabetes mellitus, transient neonatalAD/AR78601
ABCD4Methylmalonic aciduria and homocystinuriaAR55
ACAA1Pseudo-Zellweger syndromeAD/AR
ACAD9Acyl-CoA dehydrogenase family, deficiencyAR2140
ACADLLong chain acyl-CoA dehydrogenase deficiencyAD/AR2
ACADMAcyl-CoA dehydrogenase, medium chain, deficiencyAR59163
ACADSAcyl-CoA dehydrogenase, short-chain, deficiencyAR2975
ACADVLAcyl-CoA dehydrogenase, very long chain, deficiencyAR53260
ACAT1Alpha-methylacetoacetic aciduriaAR2868
ACOX1Peroxisomal acyl-CoA oxidase deficiencyAR1124
ACSF3Combined malonic and methylmalonic aciduriaAR1518
ACY1Aminoacylase 1 deficiencyAR513
ADAMTSL2Geleophysic dysplasiaAR726
ADARDyschromatosis symmetrica hereditaria, Aicardi-Goutières syndromeAD/AR16202
ADCK3Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxiaAR2037
ADSLAdenylosuccinase deficiencyAR2253
AGK*Sengers syndromeAR1619
AGLGlycogen storage diseaseAR37237
AGPAT2Lipodystrophy, congenital generalizedAR1136
AKT2Hypoinsulinemic hypoglycemia with hemihypertrophyAD22
ALADPorphyria, acute hepaticAR712
ALAS2Anemia, sideroblastic, Protoporphyria, erythropoieticXL2793
ALDH5A1Succinic semialdehyde dehydrogenase deficiencyAR867
ALDH7A1Epilepsy, pyridoxine-dependentAR29110
ALDOAGlycogen storage diseaseAR28
ALG1*Congenital disorder of glycosylationAR1342
ALG2Congenital disorder of glycosylation, Myasthenic syndrome, congenitalAR44
ALG3Congenital disorder of glycosylationAR514
ALG6Congenital disorder of glycosylationAR625
ALG8Congenital disorder of glycosylationAR815
ALG9Congenital disorder of glycosylationAR34
ALG11Congenital disorder of glycosylationAR89
ALG12Congenital disorder of glycosylationAR813
ALG13Congenital disorder of glycosylationXL36
AMACRAlpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defectAR313
AMTGlycine encephalopathyAR2651
ANO10Spinocerebellar ataxiaAR1117
ANTXR2Hyalinosis, infantile systemic, Fibromatosis, juveline hyalineAR1340
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemiaAR1039
ARSAMetachromatic leukodystrophyAR61212
ARSBMucopolysaccharidosis (Maroteaux-Lamy)AR18192
ASAH1Spinal muscular atrophy with progressive myoclonic epilepsy, Farber lipogranulomatosisAR1153
ASLArgininosuccinic aciduriaAR37143
ASPAAspartoacylase deficiency (Canavan disease)AR1990
ATP6V0A2Cutis laxa, Wrinkly skin syndromeAR1652
ATP13A2Parkinson disease (Kufor-Rakeb syndrome)AR1135
AUH3-methylglutaconic aciduriaAR1211
B3GLCTPeters-plus syndromeAR8
B4GALT1Congenital disorder of glycosylationAR12
BCKDHAMaple syrup urine diseaseAR3891
BCKDHBMaple syrup urine diseaseAR4892
BSCL2Lipodystrophy, congenital generalized, Encephalopathy, progressiveAR2043
BTDBiotinidase deficiencyAR165231
C10ORF2Perrault syndrome, Mitochondrial DNA depletion syndromeAR31
C12ORF65Spastic paraplegia, Combined oxidative phosphorylation deficiencyAR9
CACNA1SHypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysisAD930
CAV1Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, Lipodystrophy, congenital generalizedAD/AR710
CAV3Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndromeAD/Digenic2347
CBSHomocystinuria due to cystathionine beta-synthase deficiencyAR51192
CD320Methylmalonic aciduria due to transcobalamin receptor defectAR12
CLCN1Myotonia congenita, Myotonia congenita, Myotonia leviorAD/AR46286
CLDN16Hypomagnesemia, renalAR1761
CLDN19Hypomagnesemia, renalAR317
CLN3Ceroid lipofuscinosis, neuronalAR6964
CLN5Ceroid lipofuscinosis, neuronalAR4042
CLN6Ceroid lipofuscinosis, neuronalAR2180
CLN8Ceroid lipofuscinosis, neuronalAR3135
CNNM2Hypomagnesemia, renalAR56
CNNM4Jalili syndromeAR918
COG1Congenital disorder of glycosylationAR22
COG4Congenital disorder of glycosylationAR64
COG5Congenital disorder of glycosylationAR19
COG6Congenital disorder of glycosylationAR47
COG7Congenital disorder of glycosylationAR34
COG8Congenital disorder of glycosylationAR35
COL2A1Avascular necrosis of femoral head, Rhegmatogenous retinal 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 1AD106537
COL11A2Weissenbacher-Zweymuller syndrome, Deafness, Otospondylomegaepiphyseal dysplasia, Fibrochondrogenesis, Stickler syndrome type 3 (non-ocular)AD/AR1751
COQ2Coenzyme Q10 deficiencyAR929
COQ6Coenzyme Q10 deficiencyAR711
COQ9Coenzyme Q10 deficiencyAR23
CPOXCoproporphyria, HarderoporphyriaAD/AR1469
CPS1Carbamoylphosphate synthetase I deficiencyAR17256
CPT1ACarnitine palmitoyltransferase deficiencyAR3443
CPT1BCarnitine palmitoyltransferase deficiencyAD3
CPT2Carnitine palmitoyltransferase II deficiencyAR36102
CTSCPeriodontitis, juvenile, Haim-Munk syndrome, Papillon-Lefevre syndromeAR1591
CTSDCeroid lipofuscinosis, neuronalAR1115
DBTMaple syrup urine diseaseAR2971
DDOSTCongenital disorder of glycosylationAR22
DGUOKMitochondrial DNA depletion syndromeAR1960
DHCR7Smith-Lemli-Opitz syndromeAR42194
DHDDSRetinitis pigmentosaAR13
DLDDihydrolipoyl dehydrogenase deficiencyAR1621
DOLKCongenital disorder of glycosylationAR77
DPAGT1Congenital disorder of glycosylation, Myasthenic syndrome, congenitalAR1228
DPM1Congenital disorder of glycosylationAR79
DPM2Congenital disorder of glycosylationAR22
DPM3Congenital disorder of glycosylationAR11
DPYD5-fluorouracil toxicityAD/AR1096
DYMDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasiaAR2028
ECHS1Mitochondrial short-chain enoyl-CoA hydratase 1 deficiencyAR728
EGFHypomagnesemia, renalAR13
ENO3Glycogen storage diseaseAR24
EPM2AEpilepsy, progressive myoclonicAR1274
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR728
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR713
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiencyAR36168
FBP1Fructose-1,6-bisphosphatase deficiencyAR936
FBXL4Mitochondrial DNA depletion syndromeAR1127
FECHProtoporphyria, erythropoieticAD/AR15192
FHHereditary leiomyomatosis and renal cell cancerAD89161
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defectsXL86209
FLNBLarsen syndrome (dominant), Atelosteogenesis type 1, Atelosteogenesis type 3, Spondylo-carpal-tarsal dyspasiaAD/AR3898
FOLR1Cerebral folate deficiencyAR424
FXYD2Hypomagnesemia, renalAD11
G6PCGlycogen storage diseaseAR26111
GAAGlycogen storage diseaseAR79503
GALCKrabbe diseaseAR35210
GALNSMucopolysaccharidosis (Morquio syndrome)AR38328
GAMTGuanidinoacetate methyltransferase deficiencyAR1253
GATMArginine:glycine amidinotransferase deficiencyAR616
GBA*Gaucher diseaseAR73446
GBE1Glycogen storage diseaseAR2569
GCDHGlutaric aciduriaAR36198
GCH1Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive DystoniaAD/AR25229
GCKHyperinsulinemic hypoglycemia, familial, Diabetes mellitus, permanent neonatalAD/AR118774
GIFIntrinsic factor deficiencyAR619
GLAFabry diseaseXL191885
GLB1GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)AR53211
GLDCGlycine encephalopathyAR89214
GLUD1*Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemiaAD/AR1437
GMPPAAlacrima, achalasia, and mental retardation syndromeAR59
GNEInclusion body myopathy, Nonaka myopathy, SialuriaAD/AR32193
GNPATRhizomelic chondrodysplasia punctata, rhizomelicAR814
GNSMucopolysaccharidosis (Sanfilippo syndrome)AR625
GPC3Simpson-Golabi-Behmel syndromeXL2265
GPHNHyperekplexia, Molybdenum cofactor deficiencyAD/AR2520
GYG1Glycogen storage diseaseAR710
GYS1Glycogen storage diseaseAR26
GYS2Glycogen storage diseaseAR1219
HADH3-hydroxyacyl-CoA dehydrogenase deficiencyAR825
HADHATrifunctional protein deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyAR2367
HADHBTrifunctional protein deficiencyAR1055
HCFC1Combined methylmalonic acidemia and hyperhomocysteinemiaXL715
HEXATay-Sachs disease, GM2-gangliosidosis, Hexosaminidase A deficiencyAR69182
HEXBSandhoff diseaseAR26107
HGSNATMucopolysaccharidosis (Sanfilippo syndrome), Retinitis pigmentosaAR1766
HLCSHolocarboxylase synthetase deficiencyAR1746
HMBSPorphyria, acute intermittent, Hydroxymethylbilane synthase deficiencyAD/AR46410
HMGCL3-hydroxy-3-methylglutaryl-CoA lyase deficiencyAR851
HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 deficiencyAR826
HNF1AMaturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell, Liver adenomatosisAD47505
HNF1BRenal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndromeAD27194
HNF4ACongenital hyperinsulinism, diazoxide-responsive, Maturity onset diabetes of the young, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the youngAD19145
HPDHawksinuria, TyrosinemiaAD/AR49
HRASCostello syndrome, Congenital myopathy with excess of muscle spindlesAD3026
HSD17B4Perrault syndromeAR1886
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromicXL812
IFIH1Singleton-Merten syndromeAD1017
INSRHyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome, Donohoe syndromeAD/AR35175
ISCUMyopathy with lactic acidosisAR32
IVDIsovaleric acidemiaAR2671
KCNA1Episodic ataxia/myokymia syndromeAD2037
KCNJ2Short QT syndrome, Andersen syndrome, Long QT syndrome, Atrial fibrillationAD3483
KCNJ11Hyperinsulinemic hypoglycemia, Diabetes, permanent neonatal, Diabetes mellitus, transient neonatalAD/AR49171
L2HGDHL-2-hydroxyglutaric aciduriaAR875
LAMA2Muscular dystrophy, congenital merosin-deficient, SchizophreniaAD/AR72225
LAMP2Danon diseaseXL4681
LDB3Dilated cardiomyopathy (DCM), Myopathy, myofibrillarAD1011
LDHAGlycogen storage diseaseAR18
LIPAWolman disease, Cholesterol ester storage diseaseAR1159
LMBRD1Methylmalonic aciduria and homocystinuriaAR39
LMNAHeart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Muscular dystrophy, congenital, LMNA-related, Lipodystrophy (Dunnigan), Emery-Dreiffus muscular dystrophy, Malouf syndrome, Dilated cardiomyopathy (DCM), Mandibuloacral dysplasia type A, Progeria Hutchinson-Gilford typeAD/AR183458
LPIN1Myoglobinuria, acute, recurrentAR629
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasiaXL410
MAN1B1Mental retardationAR521
MANBAMannosidosis, lysosomalAR918
MCCC13-Methylcrotonyl-CoA carboxylase 1 deficiencyAR25103
MCCC23-Methylcrotonyl-CoA carboxylase 2 deficiencyAR21113
MCEEMethylmalonyl-CoA epimerase deficiencyAR34
MFN2Hereditary motor and sensory neuropathy, Charcot-Marie-Tooth diseaseAD/AR43198
MFSD8Ceroid lipofuscinosis, neuronalAR1941
MGAT2Congenital disorder of glycosylationAR55
MMAAMethylmalonic acidemiaAR2249
MMABMethylmalonic acidemiaAR2340
MMACHCMethylmalonic aciduria and homocystinuriaAR2785
MMADHCMethylmalonic aciduria and homocystinuriaAR1613
MOCS1Molybdenum cofactor deficiencyAR732
MOCS2Molybdenum cofactor deficiencyAR812
MOGSCongenital disorder of glycosylationAR55
MPDU1Congenital disorder of glycosylationAR45
MPICongenital disorder of glycosylationAR819
MPV17Mitochondrial DNA depletion syndromeAR2640
MTHFRHomocystinuria due to MTHFR deficiencyAR51127
MTRMethylmalonic acidemiaAR1139
MTRRHomocystinuria-megaloblastic anemia, cobalamin EAR735
MUTMethylmalonic acidemia due to methylmalonyl-CoA mutase deficiencyAR98341
MYOTMyopathy, myofibrillarAD813
NAGLUMucopolysaccharidosis (Sanfilippo syndrome)AR25156
NAGSN-acetylglutamate synthase deficiencyAR945
NDUFS1Mitochondrial complex I deficiencyAR1819
NHLRC1Epilepsy, progressive myoclonicAR1470
NPC1Niemann-Pick diseaseAR73441
NPC2Niemann-pick diseaseAR1627
OATGyrate atrophy of choroid and retinaAR6269
OPA1Glaucoma, normal tensionAD67357
OPA3Optic atrophy, 3-methylglutaconic aciduriaAD/AR712
OTCOrnithine transcarbamylase deficiencyXL326503
OXCT1Succinyl CoA:3-oxoacid CoA transferase deficiencyAR724
PAHHyperphenylalaninemia, non-PKU mild, PhenylketonuriaAR182904
PCPyruvate carboxylase deficiencyAR2439
PCBD1Hyperphenylalaninemia, BH4-deficientAR511
PCCAPropionic acidemiaAR43118
PCCBPropionic acidemiaAR44109
PCK1Phosphoenolpyruvate carboxykinase 1 deficiencyAD/AR6
PCK2Phosphoenolpyruvate carboxykinase 2 deficiencyAD/AR2
PDHA1Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiencyXL39165
PDHBPyruvate dehydrogensae E1-beta deficiencyAR413
PDHXPyruvate dehydrogenase E3-binding protein deficiencyAR1222
PDSS1Coenzyme Q10 deficiencyAR31
PDSS2Coenzyme Q10 deficiencyAR73
PDX1Pancreatic agenesis, Neonatal diabetes mellitusAR1029
PEX1Heimler syndromeAR34121
PEX2Zellweger syndrome, Peroxisome biogenesis disorderAR818
PEX3Zellweger syndrome, Peroxisome biogenesis disorderAR27
PEX5Adrenoleukodystrophy, neonatal, Rhizomelic chondrodysplasia punctata, Zellweger syndrome, Peroxisome biogenesis disorderAR414
PEX6Heimler syndromeAR24102
PEX7Refsum disease, Rhizomelic CDP type 1AR1751
PEX10Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorder, AtaxiaAR1729
PEX11BZellweger syndrome, Peroxisome biogenesis disorderAR12
PEX12Zellweger syndrome, Peroxisome biogenesis disorderAR1534
PEX13Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorderAR410
PEX16Zellweger syndrome, Peroxisome biogenesis disorderAR611
PEX26Adrenoleukodystrophy, neonatal, Zellweger syndrome, Peroxisome biogenesis disorderAR1023
PFKMGlycogen storage diseaseAR1026
PGAM2Glycogen storage diseaseAR39
PGK1Phosphoglycerate kinase 1 deficiencyXL1426
PGM1Congenital disorder of glycosylationAR924
PHKA1Glycogen storage diseaseXL57
PHKA2Glycogen storage diseaseXL20103
PHKBGlycogen storage diseaseAR724
PHKG1*Glycogen storage disease due to muscle phosphorylase kinase deficiencyAD/AR
PHKG2Glycogen storage diseaseAR731
PHYHRefsum diseaseAR936
PLIN1Lipodystrophy, familial partialAD38
PMM2Congenital disorder of glycosylationAR37119
POLGPOLG-related ataxia neuropathy spectrum disorders, Sensory ataxia, dysarthria, and ophthalmoparesis, Alpers syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR71265
POLG2Progressive external ophthalmoplegia with mitochondrial DNA deletionsAD512
PPARGInsulin resistance, Lipodystrophy, familial, partialAD/Digenic (Severe digenic insulin resistance can be due to digenic mutations in PPP1R3A and PPARG)1242
PPOXPorphyria variegataAD/AR14181
PPT1Ceroid lipofuscinosis, neuronalAR7277
PRKAG2Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndromeAD1624
PRKAG3Increased glyogen content in skeletal muscleAD11
PSAPKrabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency, Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiencyAR1524
PTRFLipodystrophy, congenital generalizedAR815
PTSHyperphenylalaninemia, BH4-deficientAR1184
PYGLGlycogen storage diseaseAR2143
PYGMGlycogen storage diseaseAR32153
QDPRHyperphenylalaninemia, BH4-deficientAR855
RAI1Smith-Magenis syndromeAD19104
RBCK1Polyglucosan body myopathyAR814
RFT1Congenital disorder of glycosylationAR77
RNASEH2AAicardi-Goutières syndromeAR1221
RNASEH2BAicardi-Goutières syndromeAR539
RNASEH2CAicardi-Goutières syndromeAR414
RPN2Congenital disorder of glycosylationAD/AR1
RRM2BProgressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR4241
RYR1Central core disease, Malignant hyperthermia, Minicore myopathy with external ophthalmoplegia, Centronuclear myopathy, Minicore myopathy, Multicore myopathyAD/AR123563
SAMHD1Aicardi-Goutières syndromeAR2248
SCN4AHyperkalemic periodic paralysis, Myotonia, potassium-aggravated, Paramyotonia congenita, Myasthenic syndrome, congenital, Normokalemic potassium-sensitive periodic paralysisAD/AR45101
SEC23BAnemia, dyserythropoietic congenitalAR1288
SGSHMucopolysaccharidosis (Sanfilippo syndrome)AR19143
SLC2A2Glycogen storage disease, Fanconi-Bickel syndrome, Neonatal diabetes mellitusAR1577
SLC6A8*Creatine deficiency syndromeXL19127
SLC7A7Lysinuric protein intoleranceAR5165
SLC12A3Gitelman syndromeAR23488
SLC16A1Hyperinsulinemic hypoglycemia, familial, Erythrocyte lactate transporter defect, Monocarboxylate transporter 1 deficiencyAD/AR1112
SLC17A5Sialuria, Finnish (Salla disease), Infantile sialic acid storage disorderAR2233
SLC22A5Carnitine deficiency, systemic primaryAR58118
SLC25A3Micochondrial phosphate carrier deficiencyAR25
SLC25A4Progressive external ophthalmoplegia with mitochondrial DNA deletions, Mitochondrial DNA depletion syndromeAD/AR1213
SLC25A13Citrin deficiencyAR20106
SLC25A15*Hyperornithinemia-hyperammonemia-homocitrullinemia syndromeAR1835
SLC25A20Carnitine-acylcarnitine translocase deficiencyAR1241
SLC30A10Hypermanganesemia with dystonia, polycythemia, and cirrhosisAR1114
SLC35A1Congenital disorder of glycosylationAR12
SLC35A2Congenital disorder of glycosylationXL713
SLC35C1Congenital disorder of glycosylation, Leukocyte adhesion deficiencyAR47
SLC37A4Glycogen storage diseaseAR25107
SLC39A4Acrodermatitis enteropathicaAR1249
SLC46A1Folate malabsorptionAR1719
SMPD1Niemann-Pick diseaseAR52230
SPG7Spastic paraplegiaAR42104
SRD5A3*Kahrizi syndrome, Congenital disorder of glycosylationAR913
SSR4Congenital disorder of glycosylationXL26
STT3ACongenital disorder of glycosylationAR11
STT3BCongenital disorder of glycosylationAR12
SUCLA2Mitochondrial DNA depletion syndromeAR826
SUCLG1Mitochondrial DNA depletion syndromeAR1228
SUMF1Multiple sulfatase deficiencyAR1851
TAZ3-Methylglutaconic aciduria, (Barth syndrome)XL35146
TBC1D4Diabetes mellitus, noninsulin-dependentAR13
TCF4Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndromeAD51129
TCN2Transcobalamin II deficiencyAR429
TIMM8A*Mohr-Tranebjaerg syndrome, Jensen syndrome, Opticoacoustic nerve atrophy with dementiaXL1121
TK2Mitochondrial DNA depletion syndromeAR3844
TMEM70Mitochondrial complex V (ATP synthase) deficiencyAR918
TMEM126AOptic atrophyAR11
TMEM165Congenital disorder of glycosylationAR46
TPP1Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxiaAR33109
TREX1Vasculopathy, retinal, with cerebral leukodystrophy, Chilblain lupus, Aicardi-Goutières syndromeAD/AR2465
TRPM6Hypomagnesemia, intestinalAR1257
TRPM7Amyotrophic lateral sclerosis-parkinsonism-dementia complexAD/AR2
TUSC3Mental retardationAR313
TYMPMitochondrial DNA depletion syndromeAR9892
URODPorphyria cutanea tarda, Porphyria, hepatoerythropoieticAD/AR15122
UROSPorphyria, congenital erythropoieticAR2549
WFS1Wolfram syndromeAR59343
ZMPSTE24Restrictive dermopathy, lethal, Mandibuloacral dysplasia with B lipodystrophyAD/AR1233
  • * Some regions of the gene are duplicated in the genome leading to limited sensitivity within the regions. Thus, low-quality variants are filtered out from the duplicated regions and only high-quality variants confirmed by other methods are reported out. Read more.

Gene, refers to HGNC approved gene symbol; Inheritance to inheritance patterns such as autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL); ClinVar, refers to a number of variants in the gene classified as pathogenic or likely pathogenic in ClinVar (; HGMD, refers to a number of variants with possible disease association in the gene listed in Human Gene Mutation Database (HGMD, The list of associated (gene specific) phenotypes are generated from CDG ( or Orphanet ( databases.

Blueprint Genetics offers a Comprehensive Metabolism Panel that covers classical genes associated with Aicardi-Goutières syndrome, familial hyperinsulinism, inborn error of metabolism, magnesium deficiency, metabolic myopathies, mitochondrial DNA depletion syndrome, periodic paralysis, primary CoQ10 deficiency, rhabdomyolysis, rhizomelic chondrodysplasia punctata and zellweger Syndrome Spectrum. The genes are carefully selected based on the existing scientific evidence, our experience and most current mutation databases. Candidate genes are excluded from this first-line diagnostic test. The test does not recognise balanced translocations or complex inversions, and it may not detect low-level mosaicism. The test should not be used for analysis of sequence repeats or for diagnosis of disorders caused by mutations in the mitochondrial DNA.

Analytical validation is a continuous process at Blueprint Genetics. Our mission is to improve the quality of the sequencing process and each modification is followed by our standardized validation process. Average sensitivity and specificity in Blueprint NGS Panels is 99.3% and 99.9% for detecting SNPs. Sensitivity to for indels vary depending on the size of the alteration: 1-10bps (96.0%), 11-20 bps (88.4%) and 21-30 bps (66.7%). The longest detected indel was 46 bps by sequence analysis. Detection limit for Del/Dup (CNV) analysis varies through the genome depending on exon size, sequencing coverage and sequence content. The sensitivity is 71.5% for single exon deletions and duplications and 99% for three exons’ deletions and duplications. We have validated the assays for different starting materials including EDTA-blood, isolated DNA (no FFPE) and saliva that all provide high-quality results. The diagnostic yield varies substantially depending on the used assay, referring healthcare professional, hospital and country. Blueprint Genetics’ Plus Analysis (Seq+Del/Dup) maximizes the chance to find molecular genetic diagnosis for your patient although Sequence Analysis or Del/Dup Analysis may be cost-effective first line test if your patient’s phenotype is suggestive for a specific mutation profile.

The sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline, integrating state-of-the art algorithms and industry-standard software solutions. Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. The highest relevance in the reported variants is achieved through elimination of false positive findings based on variability data for thousands of publicly available human reference sequences and validation against our in-house curated mutation database as well as the most current and relevant human mutation databases. Reference databases currently used are the 1000 Genomes Project (, the NHLBI GO Exome Sequencing Project (ESP;, the Exome Aggregation Consortium (ExAC;, ClinVar database of genotype-phenotype associations ( and the Human Gene Mutation Database ( The consequence of variants in coding and splice regions are estimated using the following in silico variant prediction tools: SIFT (, Polyphen (, and Mutation Taster (

Through our online ordering and statement reporting system, Nucleus, the customer can access specific details of the analysis of the patient. This includes coverage and quality specifications and other relevant information on the analysis. This represents our mission to build fully transparent diagnostics where the customer gains easy access to crucial details of the analysis process.

In addition to our cutting-edge patented sequencing technology and proprietary bioinformatics pipeline, we also provide the customers with the best-informed clinical report on the market. Clinical interpretation requires fundamental clinical and genetic understanding. At Blueprint Genetics our geneticists and clinicians, who together evaluate the results from the sequence analysis pipeline in the context of phenotype information provided in the requisition form, prepare the clinical statement. Our goal is to provide clinically meaningful statements that are understandable for all medical professionals, even without training in genetics.

Variants reported in the statement are always classified using the Blueprint Genetics Variant Classification Scheme modified from the ACMG guidelines (Richards et al. 2015), which has been developed by evaluating existing literature, databases and with thousands of clinical cases analyzed in our laboratory. Variant classification forms the corner stone of clinical interpretation and following patient management decisions. Our statement also includes allele frequencies in reference populations and in silico predictions. We also provide PubMed IDs to the articles or submission numbers to public databases that have been used in the interpretation of the detected variants. In our conclusion, we summarize all the existing information and provide our rationale for the classification of the variant.

A final component of the analysis is the Sanger confirmation of the variants classified as likely pathogenic or pathogenic. This does not only bring confidence to the results obtained by our NGS solution but establishes the mutation specific test for family members. Sanger sequencing is also used occasionally with other variants reported in the statement. In the case of variant of uncertain significance (VUS) we do not recommend risk stratification based on the genetic finding. Furthermore, in the case VUS we do not recommend use of genetic information in patient management or genetic counseling. For some cases Blueprint Genetics offers a special free of charge service to investigate the role of identified VUS.

We constantly follow genetic literature adapting new relevant information and findings to our diagnostics. Relevant novel discoveries can be rapidly translated and adopted into our diagnostics without delay. These processes ensure that our diagnostic panels and clinical statements remain the most up-to-date on the market.

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ICD & CPT codes

CPT codes


ICD codes

Commonly used ICD-10 codes when ordering the Comprehensive Metabolism Panel

E70-E90Inborn error of metabolism

Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.


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