Desórdenes Metabólicos

ESTUDIOS DISPONIBLES:

  • Canavan
  • Enfermedad de Gaucher
  • Enfermedad de Tay Sachs
  • Galactosemia
  • Melas

PANELES:

Panel Completo de Metabolismo
ABCC8Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia, Hypoglycemia, leucine-induced
ABCD1Adrenoleukodystrophy
ABCD4Methylmalonic aciduria and homocystinuria
ACAA1Pseudo-Zellweger syndrome
ACAD9Acyl-CoA dehydrogenase family, deficiency
ACADLLong chain acyl-CoA dehydrogenase deficiency
ACADMAcyl-CoA dehydrogenase, medium chain, deficiency
ACADSAcyl-CoA dehydrogenase, short-chain, deficiency
ACADVLAcyl-CoA dehydrogenase, very long chain, deficiency
ACAT1Alpha-methylacetoacetic aciduria
ACOX1Peroxisomal acyl-CoA oxidase deficiency
ACSF3Combined malonic and methylmalonic aciduria
ACY1Aminoacylase 1 deficiency
ADAMTSL2Geleophysic dysplasia
ADARAicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria
ADCK3Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxia
ADSLAdenylosuccinase deficiency
AGAAspartylglucosaminuria
AGKSengers syndrome
AGLGlycogen storage disease
AGPAT2Lipodystrophy, congenital generalized
AKT2Hypoinsulinemic hypoglycemia with hemihypertrophy
ALADPorphyria, acute hepatic
ALAS2Anemia, sideroblastic, Protoporphyria, erythropoietic
ALDH5A1Succinic semialdehyde dehydrogenase deficiency
ALDH7A1Epilepsy, pyridoxine-dependent
ALDOAGlycogen storage disease
ALG1Congenital disorder of glycosylation
ALG2Congenital disorder of glycosylation, Myasthenic syndrome, congenital
ALG3Congenital disorder of glycosylation
ALG6Congenital disorder of glycosylation
ALG8Congenital disorder of glycosylation
ALG9Congenital disorder of glycosylation
ALG11Congenital disorder of glycosylation
ALG12Congenital disorder of glycosylation
ALG13Congenital disorder of glycosylation
AMACRAlpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect
AMTGlycine encephalopathy
ANO10Spinocerebellar ataxia
ANTXR2Fibromatosis, juveline hyaline, Hyalinosis, infantile systemic
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia
ARG1Hyperargininemia
ARSAMetachromatic leukodystrophy
ARSBMucopolysaccharidosis (Maroteaux-Lamy)
ASAH1Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy
ASLArgininosuccinic aciduria
ASPAAspartoacylase deficiency (Canavan disease)
ASS1Citrullinemia
ATP6V0A2Cutis laxa, Wrinkly skin syndrome
ATP13A2Parkinson disease (Kufor-Rakeb syndrome)
AUH3-methylglutaconic aciduria
B3GLCTPeters-plus syndrome
B4GALT1Congenital disorder of glycosylation
BCKDHAMaple syrup urine disease
BCKDHBMaple syrup urine disease
BSCL2Encephalopathy, progressive, Lipodystrophy, congenital generalized
BTDBiotinidase deficiency
C10ORF2Mitochondrial DNA depletion syndrome, Perrault syndrome
C12ORF65Combined oxidative phosphorylation deficiency, Spastic paraplegia
CACNA1SHypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysis
CAV1Lipodystrophy, congenital generalized, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
CAV3Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome
CBSHomocystinuria due to cystathionine beta-synthase deficiency
CD320Methylmalonic aciduria due to transcobalamin receptor defect
CKMT1A
CKMT1B
CKMT2
CLCN1Myotonia congenita, Myotonia congenita, Myotonia levior
CLDN16Hypomagnesemia, renal
CLDN19Hypomagnesemia, renal
CLN3Ceroid lipofuscinosis, neuronal
CLN5Ceroid lipofuscinosis, neuronal
CLN6Ceroid lipofuscinosis, neuronal
CLN8Ceroid lipofuscinosis, neuronal
CNNM1Hypomagnesemia
CNNM2Hypomagnesemia, renal
CNNM4Jalili syndrome
COG1Congenital disorder of glycosylation
COG4Congenital disorder of glycosylation
COG5Congenital disorder of glycosylation
COG6Congenital disorder of glycosylation
COG7Congenital disorder of glycosylation
COG8Congenital disorder of glycosylation
COL2A1Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1
COL11A2Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome
COQ2Coenzyme Q10 deficiency
COQ6Coenzyme Q10 deficiency
COQ9Coenzyme Q10 deficiency
CPOXCoproporphyria, Harderoporphyria
CPS1Carbamoylphosphate synthetase I deficiency
CPT1ACarnitine palmitoyltransferase deficiency
CPT1BCarnitine palmitoyltransferase deficiency
CPT2Carnitine palmitoyltransferase II deficiency
CTNSCystinosis
CTSAGalactosialidosis
CTSCHaim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis, juvenile
CTSDCeroid lipofuscinosis, neuronal
CTSKPycnodysostosis
DBTMaple syrup urine disease
DDOSTCongenital disorder of glycosylation
DGUOKMitochondrial DNA depletion syndrome
DHCR7Smith-Lemli-Opitz syndrome
DHDDSRetinitis pigmentosa
DLDDihydrolipoyl dehydrogenase deficiency
DOLKCongenital disorder of glycosylation
DPAGT1Congenital disorder of glycosylation, Myasthenic syndrome, congenital
DPM1Congenital disorder of glycosylation
DPM2Congenital disorder of glycosylation
DPM3Congenital disorder of glycosylation
DPYD5-fluorouracil toxicity
DYMDyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia
ECHS1Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGFHypomagnesemia, renal
ENO3Glycogen storage disease
EPM2AEpilepsy, progressive myoclonic
ETFAGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
ETFBGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
ETFDHGlutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency
FBP1Fructose-1,6-bisphosphatase deficiency
FBXL4Mitochondrial DNA depletion syndrome
FECHProtoporphyria, erythropoietic
FHHereditary leiomyomatosis and renal cell cancer
FLNAFrontometaphyseal dysplasia, Osteodysplasty Melnick-Needles, Otopalatodigital syndrome type 1, Otopalatodigital syndrome type 2, Terminal osseous dysplasia with pigmentary defects
FLNBAtelosteogenesis type 1, Atelosteogenesis type 3, Larsen syndrome (dominant), Spondylo-carpal-tarsal dyspasia
FOLR1Cerebral folate deficiency
FUCA1Fucosidosis
FXYD2Hypomagnesemia, renal
G6PCGlycogen storage disease
GAAGlycogen storage disease
GALCKrabbe disease
GALNSMucopolysaccharidosis (Morquio syndrome)
GAMTGuanidinoacetate methyltransferase deficiency
GATMArginine:glycine amidinotransferase deficiency
GBAGaucher disease
GBE1Glycogen storage disease
GCDHGlutaric aciduria
GCH1Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia
GCKDiabetes mellitus, permanent neonatal, Hyperinsulinemic hypoglycemia, familial
GIFIntrinsic factor deficiency
GLAFabry disease
GLB1GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)
GLDCGlycine encephalopathy
GLUD1Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia
GMPPAAlacrima, achalasia, and mental retardation syndrome
GNEInclusion body myopathy, Nonaka myopathy, Sialuria
GNPATRhizomelic chondrodysplasia punctata, rhizomelic
GNPTABMucolipidosis
GNPTGMucolipidosis
GNSMucopolysaccharidosis (Sanfilippo syndrome)
GPC3Simpson-Golabi-Behmel syndrome
GPHNHyperekplexia, Molybdenum cofactor deficiency
GUSBMucopolysaccharidosis
GYG1Glycogen storage disease
GYS1Glycogen storage disease
GYS2Glycogen storage disease
HADH3-hydroxyacyl-CoA dehydrogenase deficiency
HADHALong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Trifunctional protein deficiency
HADHBTrifunctional protein deficiency
HAMPHemochromatosis
HCFC1Combined methylmalonic acidemia and hyperhomocysteinemia
HEXAGM2-gangliosidosis, Hexosaminidase A deficiency, Tay-Sachs disease
HEXBSandhoff disease
HFEHemochromatosis
HFE2Hemochromatosis
HGSNATMucopolysaccharidosis (Sanfilippo syndrome), Retinitis pigmentosa
HLCSHolocarboxylase synthetase deficiency
HMBSHydroxymethylbilane synthase deficiency, Porphyria, acute intermittent
HMGCL3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
HNF1ALiver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell
HNF1BRenal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome
HNF4ACongenital hyperinsulinism, diazoxide-responsive, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Maturity onset diabetes of the young
HPDHawksinuria, Tyrosinemia
HRASCongenital myopathy with excess of muscle spindles, Costello syndrome
HSD17B4Perrault syndrome
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic
HYAL1Mucopolysaccharidosis
IDSMucopolysaccharidosis
IDUAMucopolysaccharidosis
IFIH1Singleton-Merten syndrome
INSRDonohoe syndrome, Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome
ISCUMyopathy with lactic acidosis
IVDIsovaleric acidemia
KCNA1Episodic ataxia/myokymia syndrome
KCNJ2Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome
KCNJ11Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia
L2HGDHL-2-hydroxyglutaric aciduria
LAMA2Muscular dystrophy, congenital merosin-deficient, Schizophrenia
LAMP2Danon disease
LDB3Dilated cardiomyopathy (DCM), Myopathy, myofibrillar
LDHAGlycogen storage disease
LIPACholesterol ester storage disease, Wolman disease
LMBRD1Methylmalonic aciduria and homocystinuria
LMNADilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type
LPIN1Myoglobinuria, acute, recurrent
MAGT1Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia
MAN1B1Mental retardation
MANBAMannosidosis, lysosomal
MCCC13-Methylcrotonyl-CoA carboxylase 1 deficiency
MCCC23-Methylcrotonyl-CoA carboxylase 2 deficiency
MCEEMethylmalonyl-CoA epimerase deficiency
MCOLN1Mucolipidosis
MFN2Charcot-Marie-Tooth disease, Hereditary motor and sensory neuropathy
MFSD8Ceroid lipofuscinosis, neuronal
MGAT2Congenital disorder of glycosylation
MMAAMethylmalonic acidemia
MMABMethylmalonic acidemia
MMACHCMethylmalonic aciduria and homocystinuria
MMADHCMethylmalonic aciduria and homocystinuria
MMGT1Hypomagnesemia
MOCS1Molybdenum cofactor deficiency
MOCS2Molybdenum cofactor deficiency
MOGSCongenital disorder of glycosylation
MPDU1Congenital disorder of glycosylation
MPICongenital disorder of glycosylation
MPV17Mitochondrial DNA depletion syndrome
MTHFRHomocystinuria due to MTHFR deficiency
MTRMethylmalonic acidemia
MTRRHomocystinuria-megaloblastic anemia, cobalamin E
MUTMethylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
MYOTMyopathy, myofibrillar
NAGLUMucopolysaccharidosis (Sanfilippo syndrome)
NAGSN-acetylglutamate synthase deficiency
NDUFS1Mitochondrial complex I deficiency
NEU1Sialidosis
NHLRC1Epilepsy, progressive myoclonic
NIPA2Hypomagnesemia
NPC1Niemann-Pick disease
NPC2Niemann-pick disease
OATGyrate atrophy of choroid and retina
OPA1Glaucoma, normal tension
OPA33-methylglutaconic aciduria, Optic atrophy
OTCOrnithine transcarbamylase deficiency
OXCT1Succinyl CoA:3-oxoacid CoA transferase deficiency
PAHHyperphenylalaninemia, non-PKU mild, Phenylketonuria
PCPyruvate carboxylase deficiency
PCBD1Hyperphenylalaninemia, BH4-deficient
PCCAPropionic acidemia
PCCBPropionic acidemia
PCK1Phosphoenolpyruvate carboxykinase 1 deficiency
PCK2Phosphoenolpyruvate carboxykinase 2 deficiency
PDHA1Leigh syndrome, Pyruvate dehydrogenase E1-alpha deficiency
PDHBPyruvate dehydrogensae E1-beta deficiency
PDHXPyruvate dehydrogenase E3-binding protein deficiency
PDSS1Coenzyme Q10 deficiency
PDSS2Coenzyme Q10 deficiency
PDX1Neonatal diabetes mellitus, Pancreatic agenesis
PEX1Heimler syndrome
PEX2Peroxisome biogenesis disorder, Zellweger syndrome
PEX3Peroxisome biogenesis disorder, Zellweger syndrome
PEX5Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Rhizomelic chondrodysplasia punctata, Zellweger syndrome
PEX6Heimler syndrome
PEX7Refsum disease, Rhizomelic CDP type 1
PEX10Adrenoleukodystrophy, neonatal, Ataxia, Peroxisome biogenesis disorder, Zellweger syndrome
PEX11BPeroxisome biogenesis disorder, Zellweger syndrome
PEX12Peroxisome biogenesis disorder, Zellweger syndrome
PEX13Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome
PEX16Peroxisome biogenesis disorder, Zellweger syndrome
PEX26Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome
PFKMGlycogen storage disease
PGAM2Glycogen storage disease
PGK1Phosphoglycerate kinase 1 deficiency
PGM1Congenital disorder of glycosylation
PHKA1Glycogen storage disease
PHKA2Glycogen storage disease
PHKBGlycogen storage disease
PHKG1Glycogen storage disease due to muscle phosphorylase kinase deficiency
PHKG2Glycogen storage disease
PHYHRefsum disease
PLIN1Lipodystrophy, familial partial
PMM2Congenital disorder of glycosylation
POLGAlpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis
POLG2Progressive external ophthalmoplegia with mitochondrial DNA deletions
PPARGInsulin resistance, Lipodystrophy, familial, partial
PPOXPorphyria variegata
PPT1Ceroid lipofuscinosis, neuronal
PRKAG2Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome
PRKAG3Increased glyogen content in skeletal muscle
PRODHHyperprolinemia
PSAPCombined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency, Krabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency
PTRFLipodystrophy, congenital generalized
PTSHyperphenylalaninemia, BH4-deficient
PYGLGlycogen storage disease
PYGMGlycogen storage disease
QDPRHyperphenylalaninemia, BH4-deficient
RAI1Smith-Magenis syndrome
RBCK1Polyglucosan body myopathy
RFT1Congenital disorder of glycosylation
RNASEH2AAicardi-Goutières syndrome
RNASEH2BAicardi-Goutières syndrome
RNASEH2CAicardi-Goutières syndrome
RPN2Congenital disorder of glycosylation
RRM2BMitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RYR1Central core disease, Centronuclear myopathy, Malignant hyperthermia, Minicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy
SAMHD1Aicardi-Goutières syndrome
SCN4AHyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita
SEC23BAnemia, dyserythropoietic congenital
SGSHMucopolysaccharidosis (Sanfilippo syndrome)
SLC2A2Fanconi-Bickel syndrome, Glycogen storage disease, Neonatal diabetes mellitus
SLC3A1Cystinuria
SLC6A8Creatine deficiency syndrome
SLC6A19
SLC7A7Lysinuric protein intolerance
SLC7A9Cystinuria
SLC12A3Gitelman syndrome
SLC16A1Erythrocyte lactate transporter defect, Hyperinsulinemic hypoglycemia, familial, Monocarboxylate transporter 1 deficiency
SLC17A5Infantile sialic acid storage disorder, Sialuria, Finnish (Salla disease)
SLC22A5Carnitine deficiency, systemic primary
SLC25A3Micochondrial phosphate carrier deficiency
SLC25A4Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions
SLC25A13Citrin deficiency
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome
SLC25A20Carnitine-acylcarnitine translocase deficiency
SLC30A10Hypermanganesemia with dystonia, polycythemia, and cirrhosis
SLC35A1Congenital disorder of glycosylation
SLC35A2Congenital disorder of glycosylation
SLC35C1Congenital disorder of glycosylation, Leukocyte adhesion deficiency
SLC37A4Glycogen storage disease
SLC39A4Acrodermatitis enteropathica
SLC40A1Hemochromatosis
SLC41A2Hypomagnesemia
SLC41A3Hypomagnesemia
SLC46A1Folate malabsorption
SMPD1Niemann-Pick disease
SPG7Spastic paraplegia
SRD5A3Congenital disorder of glycosylation, Kahrizi syndrome
SSR4Congenital disorder of glycosylation
STT3ACongenital disorder of glycosylation
STT3BCongenital disorder of glycosylation
SUCLA2Mitochondrial DNA depletion syndrome
SUCLG1Mitochondrial DNA depletion syndrome
SUMF1Multiple sulfatase deficiency
SUOXSulfocysteinuria
TAZ3-Methylglutaconic aciduria, (Barth syndrome)
TBC1D4Diabetes mellitus, noninsulin-dependent
TCF4Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome
TCN2Transcobalamin II deficiency
TFR2Hemochromatosis
TIMM8AJensen syndrome, Mohr-Tranebjaerg syndrome, Opticoacoustic nerve atrophy with dementia
TK2Mitochondrial DNA depletion syndrome
TMEM70Mitochondrial complex V (ATP synthase) deficiency
TMEM126AOptic atrophy
TMEM165Congenital disorder of glycosylation
TPP1Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxia
TREX1Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy
TRPM6Hypomagnesemia, intestinal
TRPM7Amyotrophic lateral sclerosis-parkinsonism-dementia complex
TUSC3Mental retardation
TYMPMitochondrial DNA depletion syndrome
UCP2Hyperinsulinism
URODPorphyria cutanea tarda, Porphyria, hepatoerythropoietic
UROSPorphyria, congenital erythropoietic
WFS1Wolfram syndrome
ZMPSTE24Mandibuloacral dysplasia with B lipodystrophy, Restrictive dermopathy, lethal
Panel de Acidemia Orgánica / Aciduria y Déficit de Cobalamina

ABCD4

Methylmalonic aciduria and homocystinuria

ACAT1

Alpha-methylacetoacetic aciduria

ACSF3

Combined malonic and methylmalonic aciduria

BCKDHA

Maple syrup urine disease

BCKDHB

Maple syrup urine disease

CBS

Homocystinuria due to cystathionine beta-synthase deficiency

CD320

Methylmalonic aciduria due to transcobalamin receptor defect

DBT

Maple syrup urine disease

DLD

Dihydrolipoyl dehydrogenase deficiency

ETFA

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFB

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFDH

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

GCDH

Glutaric aciduria

GIF

Intrinsic factor deficiency

HCFC1

Combined methylmalonic acidemia and hyperhomocysteinemia

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

IVD

Isovaleric acidemia

LMBRD1

Methylmalonic aciduria and homocystinuria

MCCC1

3-Methylcrotonyl-CoA carboxylase 1 deficiency

MCCC2

3-Methylcrotonyl-CoA carboxylase 2 deficiency

MCEE

Methylmalonyl-CoA epimerase deficiency

MMAA

Methylmalonic acidemia

MMAB

Methylmalonic acidemia

MMACHC

Methylmalonic aciduria and homocystinuria

MMADHC

Methylmalonic aciduria and homocystinuria

MTHFR

Homocystinuria due to MTHFR deficiency

MTR

Methylmalonic acidemia

MTRR

Homocystinuria-megaloblastic anemia, cobalamin E

MUT

Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency

PCCA

Propionic acidemia

PCCB

Propionic acidemia

TCN2

Transcobalamin II deficiency

Panel de Cistinuria

SLC3A1

Cystinuria

SLC7A9

Cystinuria

Panel de Defectos Congénitos de la Glicosilación

ALG1

Congenital disorder of glycosylation

ALG2

Congenital disorder of glycosylation, Myasthenic syndrome, congenital

ALG3

Congenital disorder of glycosylation

ALG6

Congenital disorder of glycosylation

ALG8

Congenital disorder of glycosylation

ALG9

Congenital disorder of glycosylation

ALG11

Congenital disorder of glycosylation

ALG12

Congenital disorder of glycosylation

ALG13

Congenital disorder of glycosylation

ATP6V0A2

Cutis laxa, Wrinkly skin syndrome

B3GLCT

Peters-plus syndrome

B4GALT1

Congenital disorder of glycosylation

COG1

Congenital disorder of glycosylation

COG4

Congenital disorder of glycosylation

COG5

Congenital disorder of glycosylation

COG6

Congenital disorder of glycosylation

COG7

Congenital disorder of glycosylation

COG8

Congenital disorder of glycosylation

DDOST

Congenital disorder of glycosylation

DHDDS

Retinitis pigmentosa

DOLK

Congenital disorder of glycosylation

DPAGT1

Congenital disorder of glycosylation, Myasthenic syndrome, congenital

DPM1

Congenital disorder of glycosylation

DPM2

Congenital disorder of glycosylation

DPM3

Congenital disorder of glycosylation

GMPPA

Alacrima, achalasia, and mental retardation syndrome

GNE

Inclusion body myopathy, Nonaka myopathy, Sialuria

MAGT1

Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia

MAN1B1

Mental retardation

MGAT2

Congenital disorder of glycosylation

MOGS

Congenital disorder of glycosylation

MPDU1

Congenital disorder of glycosylation

MPI

Congenital disorder of glycosylation

PGM1

Congenital disorder of glycosylation

PMM2

Congenital disorder of glycosylation

RFT1

Congenital disorder of glycosylation

RPN2

Congenital disorder of glycosylation

SEC23B

Anemia, dyserythropoietic congenital

SLC35A1

Congenital disorder of glycosylation

SLC35A2

Congenital disorder of glycosylation

SLC35C1

Congenital disorder of glycosylation, Leukocyte adhesion deficiency

SRD5A3

Congenital disorder of glycosylation, Kahrizi syndrome

SSR4

Congenital disorder of glycosylation

STT3A

Congenital disorder of glycosylation

STT3B

Congenital disorder of glycosylation

TMEM165

Congenital disorder of glycosylation

TUSC3

Mental retardation

Panel de Deficiencia de Coenzima Q10

ADCK3

Coenzyme Q10 deficiency, Progressive cerebellar ataxia and atrophy, Spinocerebellar ataxia

ANO10

Spinocerebellar ataxia

APTX

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

COQ2

Coenzyme Q10 deficiency

COQ6

Coenzyme Q10 deficiency

COQ9

Coenzyme Q10 deficiency

ETFA

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFB

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFDH

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

PDSS1

Coenzyme Q10 deficiency

PDSS2

Coenzyme Q10 deficiency

Panel de Enfermedad de Almacenamiento de Glucógeno

AGL

Glycogen storage disease

ALDOA

Glycogen storage disease

ENO3

Glycogen storage disease

EPM2A

Epilepsy, progressive myoclonic

FBP1

Fructose-1,6-bisphosphatase deficiency

G6PC

Glycogen storage disease

GAA

Glycogen storage disease

GBE1

Glycogen storage disease

GYG1

Glycogen storage disease

GYS1

Glycogen storage disease

GYS2

Glycogen storage disease

LAMP2

Danon disease

LDHA

Glycogen storage disease

NHLRC1

Epilepsy, progressive myoclonic

PFKM

Glycogen storage disease

PGAM2

Glycogen storage disease

PGK1

Phosphoglycerate kinase 1 deficiency

PGM1

Congenital disorder of glycosylation

PHKA1

Glycogen storage disease

PHKA2

Glycogen storage disease

PHKB

Glycogen storage disease

PHKG2

Glycogen storage disease

PRKAG2

Hypertrophic cardiomyopathy (HCM), Wolff-Parkinson-White syndrome

PRKAG3

Increased glyogen content in skeletal muscle

PYGL

Glycogen storage disease

PYGM

Glycogen storage disease

RBCK1

Polyglucosan body myopathy

SLC2A2

Fanconi-Bickel syndrome, Glycogen storage disease, Neonatal diabetes mellitus

SLC37A4

Glycogen storage disease

Panel de Enfermedades Lisosomales y Mucopolisacaridosis

ABCC8

Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia, Hypoglycemia, leucine-induced

ACY1

Aminoacylase 1 deficiency

ADAMTSL2

Geleophysic dysplasia

ADSL

Adenylosuccinase deficiency

AGA

Aspartylglucosaminuria

ALDH5A1

Succinic semialdehyde dehydrogenase deficiency

ALDH7A1

Epilepsy, pyridoxine-dependent

AMT

Glycine encephalopathy

ANTXR2

Fibromatosis, juveline hyaline, Hyalinosis, infantile systemic

ARG1

Hyperargininemia

ARSA

Metachromatic leukodystrophy

ARSB

Mucopolysaccharidosis (Maroteaux-Lamy)

ASAH1

Farber lipogranulomatosis, Spinal muscular atrophy with progressive myoclonic epilepsy

ASPA

Aspartoacylase deficiency (Canavan disease)

ATP13A2

Parkinson disease (Kufor-Rakeb syndrome)

BTD

Biotinidase deficiency

CLN3

Ceroid lipofuscinosis, neuronal

CLN5

Ceroid lipofuscinosis, neuronal

CLN6

Ceroid lipofuscinosis, neuronal

CLN8

Ceroid lipofuscinosis, neuronal

COL2A1

Achondrogenesis type 2, Avascular necrosis of femoral head, Czech dysplasia, Epiphyseal dysplasia, with myopia and deafness, Hypochondrogenesis, Kniest dysplasia, Mild SED with premature onset arthrosis, Platyspondylic dysplasia Torrance type, Rhegmatogenous retinal detachment, SED with metatarsal shortening, Spondyloepimetaphyseal dysplasia (SEMD) Strudwick type, Spondyloepiphyseal dysplasia congenital (SEDC), Spondyloperipheral dysplasia, Stickler syndrome type 1

COL11A2

Deafness, Fibrochondrogenesis, Otospondylomegaepiphyseal dysplasia, Stickler syndrome type 3 (non-ocular), Weissenbacher-Zweymuller syndrome

CTNS

Cystinosis

CTSA

Galactosialidosis

CTSC

Haim-Munk syndrome, Papillon-Lefevre syndrome, Periodontitis, juvenile

CTSD

Ceroid lipofuscinosis, neuronal

CTSK

Pycnodysostosis

DHCR7

Smith-Lemli-Opitz syndrome

DPYD

5-fluorouracil toxicity

DYM

Dyggve-Melchior-Clausen dysplasia, Smith-McCort dysplasia

ETFA

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFB

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFDH

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

FH

Hereditary leiomyomatosis and renal cell cancer

FOLR1

Cerebral folate deficiency

FUCA1

Fucosidosis

GAA

Glycogen storage disease

GALC

Krabbe disease

GALNS

Mucopolysaccharidosis (Morquio syndrome)

GAMT

Guanidinoacetate methyltransferase deficiency

GBA

Gaucher disease

GCDH

Glutaric aciduria

GLA

Fabry disease

GLB1

GM1-gangliosidosis, Mucopolysaccharidosis (Morquio syndrome)

GLDC

Glycine encephalopathy

GNE

Inclusion body myopathy, Nonaka myopathy, Sialuria

GNPTAB

Mucolipidosis

GNPTG

Mucolipidosis

GNS

Mucopolysaccharidosis (Sanfilippo syndrome)

GPC3

Simpson-Golabi-Behmel syndrome

GUSB

Mucopolysaccharidosis

HEXA

GM2-gangliosidosis, Hexosaminidase A deficiency, Tay-Sachs disease

HEXB

Sandhoff disease

HGSNAT

Mucopolysaccharidosis (Sanfilippo syndrome), Retinitis pigmentosa

HPD

Hawksinuria, Tyrosinemia

HRAS

Congenital myopathy with excess of muscle spindles, Costello syndrome

HYAL1

Mucopolysaccharidosis

IDS

Mucopolysaccharidosis

IDUA

Mucopolysaccharidosis

L2HGDH

L-2-hydroxyglutaric aciduria

LAMA2

Muscular dystrophy, congenital merosin-deficient, Schizophrenia

LDB3

Dilated cardiomyopathy (DCM), Myopathy, myofibrillar

LIPA

Cholesterol ester storage disease, Wolman disease

MAN1B1

Mental retardation

MANBA

Mannosidosis, lysosomal

MCOLN1

Mucolipidosis

MFSD8

Ceroid lipofuscinosis, neuronal

MOCS1

Molybdenum cofactor deficiency

MOCS2

Molybdenum cofactor deficiency

MYOT

Myopathy, myofibrillar

NAGLU

Mucopolysaccharidosis (Sanfilippo syndrome)

NEU1

Sialidosis

NPC1

Niemann-Pick disease

NPC2

Niemann-pick disease

PEX1

Heimler syndrome

PEX3

Peroxisome biogenesis disorder, Zellweger syndrome

PEX5

Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Rhizomelic chondrodysplasia punctata, Zellweger syndrome

PEX6

Heimler syndrome

PEX10

Adrenoleukodystrophy, neonatal, Ataxia, Peroxisome biogenesis disorder, Zellweger syndrome

PEX12

Peroxisome biogenesis disorder, Zellweger syndrome

PEX13

Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome

PEX16

Peroxisome biogenesis disorder, Zellweger syndrome

PEX26

Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome

PGK1

Phosphoglycerate kinase 1 deficiency

PHYH

Refsum disease

PPT1

Ceroid lipofuscinosis, neuronal

PRODH

Hyperprolinemia

PSAP

Combined saposin deficiency, Gaucher disease, atypical, due to saposin C deficiency, Krabbe disease, atypical, Metachromatic leukodystrophy due to saposin-b deficiency

QDPR

Hyperphenylalaninemia, BH4-deficient

RAI1

Smith-Magenis syndrome

SGSH

Mucopolysaccharidosis (Sanfilippo syndrome)

SLC17A5

Infantile sialic acid storage disorder, Sialuria, Finnish (Salla disease)

SLC25A15

Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

SLC46A1

Folate malabsorption

SMPD1

Niemann-Pick disease

SUMF1

Multiple sulfatase deficiency

SUOX

Sulfocysteinuria

TCF4

Corneal dystrophy, Fuchs endothelial, Pitt-Hopkins syndrome

TPP1

Ceroid lipofuscinosis, neuronal, Spinocerebellar ataxia

Panel de Enfermedades Peroxisomales

ABCD1

Adrenoleukodystrophy

ACOX1

Peroxisomal acyl-CoA oxidase deficiency

AMACR

Alpha-methylacyl-CoA racemase deficiency, Bile acid synthesis defect

GNPAT

Rhizomelic chondrodysplasia punctata, rhizomelic

HSD17B4

Perrault syndrome

PEX1

Heimler syndrome

PEX2

Peroxisome biogenesis disorder, Zellweger syndrome

PEX3

Peroxisome biogenesis disorder, Zellweger syndrome

PEX5

Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Rhizomelic chondrodysplasia punctata, Zellweger syndrome

PEX6

Heimler syndrome

PEX7

Refsum disease, Rhizomelic CDP type 1

PEX10

Adrenoleukodystrophy, neonatal, Ataxia, Peroxisome biogenesis disorder, Zellweger syndrome

PEX11B

Peroxisome biogenesis disorder, Zellweger syndrome

PEX12

Peroxisome biogenesis disorder, Zellweger syndrome

PEX13

Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome

PEX16

Peroxisome biogenesis disorder, Zellweger syndrome

PEX26

Adrenoleukodystrophy, neonatal, Peroxisome biogenesis disorder, Zellweger syndrome

PHYH

Refsum disease

Panel de Enfermedades de Oxidación de Ácidos Grasos

ACAA1

Pseudo-Zellweger syndrome

ACAD9

Acyl-CoA dehydrogenase family, deficiency

ACADL

Long chain acyl-CoA dehydrogenase deficiency

ACADM

Acyl-CoA dehydrogenase, medium chain, deficiency

ACADS

Acyl-CoA dehydrogenase, short-chain, deficiency

ACADVL

Acyl-CoA dehydrogenase, very long chain, deficiency

ALDH5A1

Succinic semialdehyde dehydrogenase deficiency

CPT1A

Carnitine palmitoyltransferase deficiency

CPT2

Carnitine palmitoyltransferase II deficiency

ECHS1

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

ETFA

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFB

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFDH

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

GLUD1

Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia

HADH

3-hydroxyacyl-CoA dehydrogenase deficiency

HADHA

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Trifunctional protein deficiency

HADHB

Trifunctional protein deficiency

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

HMGCS2

3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency

HSD17B10

17-beta-hydroxysteroid dehydrogenase X deficiency, Mental retardation, syndromic

LPIN1

Myoglobinuria, acute, recurrent

PPARG

Insulin resistance, Lipodystrophy, familial, partial

SLC22A5

Carnitine deficiency, systemic primary

SLC25A20

Carnitine-acylcarnitine translocase deficiency

TAZ

3-Methylglutaconic aciduria, (Barth syndrome)

Panel de Hemocromatosis Hereditaria

HAMP

Hemochromatosis

HFE

Hemochromatosis

HFE2

Hemochromatosis

SLC40A1

Hemochromatosis

TFR2

Hemochromatosis

Panel de Hiperamonemia y Trastornos del Ciclo de la Urea

ACADM

Acyl-CoA dehydrogenase, medium chain, deficiency

ACADS

Acyl-CoA dehydrogenase, short-chain, deficiency

ACADVL

Acyl-CoA dehydrogenase, very long chain, deficiency

ARG1

Hyperargininemia

ASL

Argininosuccinic aciduria

ASS1

Citrullinemia

BCKDHA

Maple syrup urine disease

BCKDHB

Maple syrup urine disease

CPS1

Carbamoylphosphate synthetase I deficiency

CPT1A

Carnitine palmitoyltransferase deficiency

CPT2

Carnitine palmitoyltransferase II deficiency

DBT

Maple syrup urine disease

DLD

Dihydrolipoyl dehydrogenase deficiency

ETFA

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFB

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFDH

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

GLUD1

Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia

HADHA

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Trifunctional protein deficiency

HADHB

Trifunctional protein deficiency

HCFC1

Combined methylmalonic acidemia and hyperhomocysteinemia

HLCS

Holocarboxylase synthetase deficiency

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

HMGCS2

3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency

IVD

Isovaleric acidemia

MCCC1

3-Methylcrotonyl-CoA carboxylase 1 deficiency

MCCC2

3-Methylcrotonyl-CoA carboxylase 2 deficiency

MMAA

Methylmalonic acidemia

MMAB

Methylmalonic acidemia

MMACHC

Methylmalonic aciduria and homocystinuria

MMADHC

Methylmalonic aciduria and homocystinuria

MUT

Methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency

NAGS

N-acetylglutamate synthase deficiency

OAT

Gyrate atrophy of choroid and retina

OTC

Ornithine transcarbamylase deficiency

PC

Pyruvate carboxylase deficiency

PCCA

Propionic acidemia

PCCB

Propionic acidemia

SLC7A7

Lysinuric protein intolerance

SLC22A5

Carnitine deficiency, systemic primary

SLC25A13

Citrin deficiency

SLC25A15

Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome

SLC25A20

Carnitine-acylcarnitine translocase deficiency

SUCLA2

Mitochondrial DNA depletion syndrome

SUCLG1

Mitochondrial DNA depletion syndrome

TMEM70

Mitochondrial complex V (ATP synthase) deficiency

Panel de Hiperfenilalaninemia

GCH1

Dopa-Responsive Dystonia Hyperphenylalaninemia, BH4-deficient, GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia

PAH

Hyperphenylalaninemia, non-PKU mild, Phenylketonuria

PCBD1

Hyperphenylalaninemia, BH4-deficient

PTS

Hyperphenylalaninemia, BH4-deficient

QDPR

Hyperphenylalaninemia, BH4-deficient

Panel de Hipoglucemia, Hiperinsulinemia y Metabolismo de los Cuerpos Cetónicos

ABCC8

Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia, Hypoglycemia, leucine-induced

ACAT1

Alpha-methylacetoacetic aciduria

FBP1

Fructose-1,6-bisphosphatase deficiency

GCK

Diabetes mellitus, permanent neonatal, Hyperinsulinemic hypoglycemia, familial

GLUD1

Hyperammonemia-hyperinsulinism, Hyperinsulinemic hypoglycemia

HADH

3-hydroxyacyl-CoA dehydrogenase deficiency

HMGCL

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

HMGCS2

3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency

HNF1A

Liver adenomatosis, Maturity onset diabetes of the young, Renal cell carcinoma, nonpapillary clear cell

HNF4A

Congenital hyperinsulinism, diazoxide-responsive, Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young, Maturity onset diabetes of the young

INSR

Donohoe syndrome, Hyperinsulinemic hypoglycemia, familial, Rabson-Mendenhall syndrome

KCNJ11

Diabetes mellitus, transient neonatal, Diabetes, permanent neonatal, Hyperinsulinemic hypoglycemia

OXCT1

Succinyl CoA:3-oxoacid CoA transferase deficiency

PCK1

Phosphoenolpyruvate carboxykinase 1 deficiency

PCK2

Phosphoenolpyruvate carboxykinase 2 deficiency

PDX1

Neonatal diabetes mellitus, Pancreatic agenesis

SLC16A1

Erythrocyte lactate transporter defect, Hyperinsulinemic hypoglycemia, familial, Monocarboxylate transporter 1 deficiency

UCP2

Hyperinsulinism

Panel de Hipomagnesemia

CLDN16

Hypomagnesemia, renal

CLDN19

Hypomagnesemia, renal

CNNM1

Hypomagnesemia

CNNM2

Hypomagnesemia, renal

CNNM4

Jalili syndrome

EGF

Hypomagnesemia, renal

FXYD2

Hypomagnesemia, renal

HNF1B

Renal cell carcinoma, nonpapillary chromophobe, Renal cysts and diabetes syndrome

KCNA1

Episodic ataxia/myokymia syndrome

MAGT1

Immunodeficiency, with magnesium defect, Epstein-Barr virus infection and neoplasia

MMGT1

Hypomagnesemia

NIPA2

Hypomagnesemia

SLC12A3

Gitelman syndrome

SLC41A2

Hypomagnesemia

SLC41A3

Hypomagnesemia

TRPM6

Hypomagnesemia, intestinal

TRPM7

Amyotrophic lateral sclerosis-parkinsonism-dementia complex

Panel de Lipodistrofias Congénita y Familiar

AGPAT2

Lipodystrophy, congenital generalized

AKT2

Hypoinsulinemic hypoglycemia with hemihypertrophy

BSCL2

Encephalopathy, progressive, Lipodystrophy, congenital generalized

CAV1

Lipodystrophy, congenital generalized, Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

LMNA

Dilated cardiomyopathy (DCM), Emery-Dreiffus muscular dystrophy, Heart-hand syndrome, Slovenian, Limb-girdle muscular dystrophy, Lipodystrophy (Dunnigan), Malouf syndrome, Mandibuloacral dysplasia type A, Muscular dystrophy, congenital, LMNA-related, Progeria Hutchinson-Gilford type

PLIN1

Lipodystrophy, familial partial

PPARG

Insulin resistance, Lipodystrophy, familial, partial

PTRF

Lipodystrophy, congenital generalized

TBC1D4

Diabetes mellitus, noninsulin-dependent

ZMPSTE24

Mandibuloacral dysplasia with B lipodystrophy, Restrictive dermopathy, lethal

Panel de Miopatías Metabólicas y Rabdiomiolisis

ACAD9

Acyl-CoA dehydrogenase family, deficiency

ACADL

Long chain acyl-CoA dehydrogenase deficiency

ACADM

Acyl-CoA dehydrogenase, medium chain, deficiency

ACADVL

Acyl-CoA dehydrogenase, very long chain, deficiency

AGL

Glycogen storage disease

ALDOA

Glycogen storage disease

C10ORF2

Mitochondrial DNA depletion syndrome, Perrault syndrome

CAV3

Creatine phosphokinase, elevated serum, Hypertrophic cardiomyopathy (HCM), Long QT syndrome

CPT1B

Carnitine palmitoyltransferase deficiency

CPT2

Carnitine palmitoyltransferase II deficiency

ENO3

Glycogen storage disease

ETFA

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFB

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

ETFDH

Glutaric aciduria, Multiple acyl-CoA dehydrogenase deficiency

GAA

Glycogen storage disease

GBE1

Glycogen storage disease

GYG1

Glycogen storage disease

GYS1

Glycogen storage disease

HADHA

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Trifunctional protein deficiency

HADHB

Trifunctional protein deficiency

ISCU

Myopathy with lactic acidosis

LDHA

Glycogen storage disease

LPIN1

Myoglobinuria, acute, recurrent

OPA1

Glaucoma, normal tension

OPA3

3-methylglutaconic aciduria, Optic atrophy

PFKM

Glycogen storage disease

PGAM2

Glycogen storage disease

PGK1

Phosphoglycerate kinase 1 deficiency

PGM1

Congenital disorder of glycosylation

PHKA1

Glycogen storage disease

PHKG1

Glycogen storage disease due to muscle phosphorylase kinase deficiency

POLG

Alpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis

PYGM

Glycogen storage disease

RBCK1

Polyglucosan body myopathy

RRM2B

Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions

RYR1

Central core disease, Centronuclear myopathy, Malignant hyperthermia, Minicore myopathy, Minicore myopathy with external ophthalmoplegia, Multicore myopathy

SLC22A5

Carnitine deficiency, systemic primary

SUCLA2

Mitochondrial DNA depletion syndrome

TK2

Mitochondrial DNA depletion syndrome

TYMP

Mitochondrial DNA depletion syndrome

Panel de Obesidad Monogénica

ALMS1

Alström syndrome

ARL6

Bardet-Biedl syndrome, Retinitis pigmentosa

BBS1

Bardet-Biedl syndrome

BBS2

Bardet-Biedl syndrome, Retinitis pigmentosa

BBS4

Bardet-Biedl syndrome

BBS5

Bardet-Biedl syndrome

BBS7

Bardet-Biedl syndrome

BBS9

Bardet-Biedl syndrome

BBS10

Bardet-Biedl syndrome

BBS12

Bardet-Biedl syndrome

CEP290

Bardet-Biedl syndrome, Joubert syndrome, Leber congenital amaurosis, Meckel syndrome, Senior-Loken syndrome

CRTC1

Mucoepidermoid salivary gland carcinoma

CUL4B

Mental retardation, syndromic, Cabezas

DYRK1B

Abdominal obesity-metabolic syndrome

GNAS

Albright hereditary osteodystrophy, McCune-Albright syndrome, Progressive osseous heteroplasia, Pseudohypoparathyroidism

LEP

Leptin deficiency

LEPR

Leptin receptor deficiency

MAGEL2

Schaaf-Yang syndrome (Prader-Willi-like syndrome)

MC3R

Obesity due to MC3R deficiency

MC4R

Obesity

MKKS

Bardet-Biedl syndrome, McKusick-Kaufman syndrome

MKS1

Bardet-Biedl syndrome, Meckel syndrome

NR0B2

Obesity, mild, early-onset

NTRK2

Obesity, hyperphagia, and developmental delay

PCSK1

Proprotein convertase 1/3 deficiency

PHF6

Borjeson-Forssman-Lehmann syndrome

POMC

Proopiomelanocortin deficiency

PPARG

Insulin resistance, Lipodystrophy, familial, partial

PYY

Obesity

SDCCAG8

Bardet-Biedl syndrome, Senior-Loken syndrome

SIM1

6q16 deletion syndrome, Obesity due to SIM1 deficiency, Prader-Willi-like syndrome

TRIM32

Bardet-Biedl syndrome, Muscular dystrophy, limb-girdle

TTC8

Bardet-Biedl syndrome, Retinitis pigmentosa

UCP3

Obesity, severe, and type II diabetes

VPS13B

Cohen syndrome

WDPCP

Bardet-Biedl syndrome, Congenital heart defects, hamartomas of tongue, and polysyndactyly, Meckel-Gruber syndrome, modifier

Panel de Parálisis Periódica

CACNA1S

Hypokalemic periodic paralysis, Malignant hyperthermia, Thyrotoxic periodic paralysis

CLCN1

Myotonia congenita, Myotonia congenita, Myotonia levior

KCNJ2

Andersen syndrome, Atrial fibrillation, Long QT syndrome, Short QT syndrome

SCN4A

Hyperkalemic periodic paralysis, Myasthenic syndrome, congenital, Myotonia, potassium-aggravated, Normokalemic potassium-sensitive periodic paralysis, Paramyotonia congenita

Panel de Porfiria

ALAD

Porphyria, acute hepatic

ALAS2

Anemia, sideroblastic, Protoporphyria, erythropoietic

CPOX

Coproporphyria, Harderoporphyria

FECH

Protoporphyria, erythropoietic

HFE

Hemochromatosis

HMBS

Hydroxymethylbilane synthase deficiency, Porphyria, acute intermittent

PPOX

Porphyria variegata

UROD

Porphyria cutanea tarda, Porphyria, hepatoerythropoietic

UROS

Porphyria, congenital erythropoietic

Panel de Síndrome de Aicardi-Goutières

ADAR

Aicardi-Goutières syndrome, Dyschromatosis symmetrica hereditaria

IFIH1

Singleton-Merten syndrome

RNASEH2A

Aicardi-Goutières syndrome

RNASEH2B

Aicardi-Goutières syndrome

RNASEH2C

Aicardi-Goutières syndrome

SAMHD1

Aicardi-Goutières syndrome

TREX1

Aicardi-Goutières syndrome, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy

Panel de Síndrome de Deficiencia de Creatina

CKMT1A

 

CKMT1B

 

CKMT2

 

GAMT

Guanidinoacetate methyltransferase deficiency

GATM

Arginine:glycine amidinotransferase deficiency

SLC6A8

Creatine deficiency syndrome

Panel de Síndrome de Depleción del ADN Mitocondrial

AGK

Sengers syndrome

APTX

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

AUH

3-methylglutaconic aciduria

C10ORF2

Mitochondrial DNA depletion syndrome, Perrault syndrome

C12ORF65

Combined oxidative phosphorylation deficiency, Spastic paraplegia

DGUOK

Mitochondrial DNA depletion syndrome

FBXL4

Mitochondrial DNA depletion syndrome

MFN2

Charcot-Marie-Tooth disease, Hereditary motor and sensory neuropathy

MPV17

Mitochondrial DNA depletion syndrome

NDUFS1

Mitochondrial complex I deficiency

OPA1

Glaucoma, normal tension

OPA3

3-methylglutaconic aciduria, Optic atrophy

POLG

Alpers syndrome, Mitochondrial DNA depletion syndrome, POLG-related ataxia neuropathy spectrum disorders, Progressive external ophthalmoplegia with mitochondrial DNA deletions, Sensory ataxia, dysarthria, and ophthalmoparesis

POLG2

Progressive external ophthalmoplegia with mitochondrial DNA deletions

RRM2B

Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions

SLC25A3

Micochondrial phosphate carrier deficiency

SLC25A4

Mitochondrial DNA depletion syndrome, Progressive external ophthalmoplegia with mitochondrial DNA deletions

SPG7

Spastic paraplegia

SUCLA2

Mitochondrial DNA depletion syndrome

SUCLG1

Mitochondrial DNA depletion syndrome

TIMM8A

Jensen syndrome, Mohr-Tranebjaerg syndrome, Opticoacoustic nerve atrophy with dementia

TK2

Mitochondrial DNA depletion syndrome

TMEM126A

Optic atrophy

TYMP

Mitochondrial DNA depletion syndrome

WFS1

Wolfram syndrome

 

Clasificación de Variantes

 

EXOMA.

 

MICROARRAYS.

Clasificación de Variantes

Al realizar un diagnóstico genético, la clasificación de variantes es la base a partir de la cual se toman las decisiones médicas. Específicamente, es importante conocer si una variante es patogénica o casi patogénica porque influye en el cuidado y tratamiento adecuados.

 

Breve guía para entender la clasificación de variantes.

 

Variante patogénica.

La variante es considerada la causa de la enfermedad.

 

Variante casi patogénica.

La variante identificada es considerada una probable causa de la enfermedad. La información debe ser usada con precaución al momento de tomar decisiones médicas dado que existe un grado de incertidumbre.

 

Variante de significado incierto.

La variante podría ser una mutación independiente causante de la enfermedad pero la evidencia existente es insuficiente y contradictoria.

 

Variante casi benigna.

La variante probablemente no sea la causa de la enfermedad estudiada.

 

Variante benigna.

La variante no es considerada la causa de la enfermedad estudiada.

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