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Know how in the analysis of genetic material.
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IllnessCarbohydrate metabolism disorders, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Oligosaccharidoses comprising altogether 114 curated genes according to the clinical signs

ID
OP0030
Number of loci
Locus typeCount
Gen 112
Accredited laboratory test
Examined sequence length
14,4 kb (Core-/Core-canditate-Genes)
202,0 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AGA1041NM_000027.4AR
ALDOB1095NM_000035.4AR
CTSA1497NM_000308.4AR
FUCA11401NM_000147.5AR
GALT1140NM_000155.4AR
MAN2B13036NM_000528.4AR
MANBA2640NM_005908.4AR
NAGA1236NM_000262.3AR
NEU11248NM_000434.4AR
ABCC84746NM_000352.6AD, AR
AGL4599NM_000642.3AR
AGPAT2837NM_006412.4AR
AGXT1179NM_000030.3AR
AKT21446NM_001626.6AD
ALDOA1095NM_184041.5AR
APPL12129NM_012096.3AD
ARSB1602NM_000046.5AR
BSCL21197NM_032667.6AR
CA5A918NM_001739.2AR
CISD2408NM_001008388.5AR
DCAF171563NM_025000.4AR
DCXR729NM_001195218.1AR
DNAJC31515NM_006260.5AR
DYRK1B1890NM_004714.3AD
EIF2AK33351NM_004836.7AR
EIF2S31419NM_001415.4XLR
ENO31305NM_053013.4AR
FBP11017NM_000507.4AR
FOXP31296NM_014009.4XLR
G6PC11074NM_000151.4AR
GAA2859NM_000152.5AR
GALE1047NM_000403.4AR
GALK11179NM_000154.2AR
GALNS1569NM_000512.5AR
GATA41329NM_002052.5AD
GATA61788NM_005257.6AD
GBE12109NM_000158.4AR
GCK1398NM_000162.5AD, AR
GK1575NM_000167.6XLR
GLB12034NM_000404.4AR
GLIS32328NM_152629.4AR
GLYCTK705NM_001144951.2AR
GNS1659NM_002076.4AR
GPI1677NM_000175.5AR
GRHPR987NM_012203.2AR
GYG11053NM_004130.4AR
GYS12022NM_001161587.2AR
GYS22112NM_021957.4AR
HGSNAT1908NM_152419.3AR
HNF1A1896NM_000545.8AD
HNF1B1674NM_000458.4AD
HNF4A1359NM_175914.4AD
HOGA1984NM_138413.4AR
IDS1653NM_000202.8XL
IDUA1962NM_000203.5AR
IER3IP1249NM_016097.5AR
IL2RA819NM_000417.3AR
INS333NM_000207.3AD, AR
INSR4149NM_000208.4AD, AR
KCNJ111173NM_000525.4AD, AR
KHK897NM_000221.3AR
LAMP21233NM_002294.3XL
LCT5784NM_002299.4AR
LDHA999NM_005566.4AR
LMNA1995NM_170707.4AD
LRBA8556NM_001199282.2AR
NAGLU2232NM_000263.4AD, AR
NEUROD11071NM_002500.5AD, AR
NEUROG3645NM_020999.4AR
NKX2-2822NM_002509.4AR
PAX61269NM_000280.5AD
PC3537NM_000920.4AR
PCBD1315NM_000281.4AR
PCK11869NM_002591.4AR
PDX1852NM_000209.4AR
PFKM2343NM_000289.6AR
PGAM2762NM_000290.4AR
PGK11254NM_000291.4XLR
PGM11743NM_002633.3AR
PHKA13633NM_002637.4XLR
PHKA23708NM_000292.3XLR
PHKB3282NM_000293.3AR
PHKG21221NM_000294.3AR
PIK3R12175NM_181523.3AD
PLIN11569NM_002666.5AD
POLD13324NM_002691.4AD
PPARG1518NM_015869.5AD
PPP1R15B2142NM_032833.5AR
PTF1A987NM_178161.3AR
PYGL2544NM_002863.5AR
PYGM2529NM_005609.4AR
RBCK11407NM_006462.6AR
RFX62787NM_173560.4AR
RPIA936NM_144563.3AR
SGSH1509NM_000199.5AR
SI5484NM_001041.4AR
SLC16A11503NM_003051.4AD, AR
SLC19A21494NM_006996.3AR
SLC29A31428NM_018344.6AR
SLC2A11479NM_006516.4AD, AR
SLC2A21575NM_000340.2AR
SLC37A41291NM_001164277.2AR, AD
SLC5A11995NM_000343.4AR
SLC5A22019NM_003041.4AD, AR
STAT32313NM_139276.3AD
TALDO11014NM_006755.2AR
TPI1750NM_000365.6AR
TRMT10A1020NM_001134665.3AR
WFS12673NM_006005.3AR
ZBTB202226NM_001164342.2AD
ZFP571611NM_001109809.5AD
ZMPSTE241428NM_005857.5AR

Informations about the disease

Clinical Comment

Carbohydrate metabolic disorders are a very heterogeneous group of hereditary metabolic diseases.

They affect the catabolism and anabolism of carbohydrates. In most cases, the disorders are based on the inability to use carbohydrate metabolites effectively. In some cases, the accumulation of a toxic metabolic product can also be the cause.

Typical carbohydrate metabolism disorders are galactosemia, fucosidosis, aspartylglucosaminuria or fructose intolerance.

In this panel, genes are examined according to the suspected clinical diagnosis.

An inconspicuous genetic diagnosis never completely rules out a genetic cause of the symptoms.

(Source: https://www.orpha.net/de/disease/detail/79161?search=Kohlenhydrat-Stoffwechselstorung&mode=name;https://academic.oup.com/book/37215/chapter-abstract/327552954?redirectedFrom=fulltext)

 

Synonyms
  • Alias: Oligosaccharidoses
  • Allelic: Agammaglobulinemia 7, (AR (PIK3R1)
  • Allelic: Aniridia (PAX6)
  • Allelic: Anterior segment dysgenesis 5, multiple subtypes (PAX6)
  • Allelic: Atrial septal defect 2 (GATA4)
  • Allelic: Atrial septal defect 9 (GATA6)
  • Allelic: Atrioventricular septal defect 4 (GATA4)
  • Allelic: Atrioventricular septal defect 5 (GATA6)
  • Allelic: Autoimmune disease, multisystem, infantile-onset, 1 (STAT3)
  • Allelic: Cardiomyopathy, dilated, 1A (LMNA)
  • Allelic: Carotid intimal medial thickness 1 (PPARG)
  • Allelic: Cataract 41 (WFS1)
  • Allelic: Cataract with late-onset corneal dystrophy (PAX6)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Coloboma of optic nerve (PAX6)
  • Allelic: Coloboma, ocular (PAX6)
  • Allelic: Colorectal cancer, susceptibility to, 1 (POLD1)
  • Allelic: Deafness, AD 6/14/38 (WFS1)
  • Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Allelic: Foveal hypoplasia 1 (PAX6)
  • Allelic: Heart-hand syndrome, Slovenian type (LMNA)
  • Allelic: Hyper-IgE recurrent infection syndrome (STAT3)
  • Allelic: Immunodeficiency 36 (PIK3R1)
  • Allelic: Keratitis (PAX6)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Morning glory disc anomaly (PAX6)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Optic nerve hypoplasia (PAX6)
  • Allelic: Persistent truncus arteriosus (GATA6)
  • Allelic: Renal cell carcinoma (HNF1A, HNF1B)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Restrictive dermopathy, lethal (ZMPSTE24)
  • Allelic: Retinitis pigmentosa 73 (HGSNAT)
  • Allelic: Testicular anomalies withwithout congenital heart disease (GATA4)
  • Allelic: Tetralogy of Fallot (GATA4, GATA6)
  • Allelic: Ventricular septal defect 1 (GATA4)
  • Abdominal obesity-metabolic syndrome (DYRK1B)
  • Aspartylglucosaminuria (AGA)
  • Ataxia, combined cerebellar + peripheral, with hearing loss + diabetes mellitus (DNAJC3)
  • Congenital disorder of glycosylation, type IIw (SLC37A4)
  • Congenital disorder of glycosylation, type It (PGM1)
  • Currarino syndrome (MNX1)
  • D-glyceric aciduria (GLYCTK)
  • Danon disease (LAMP2)
  • Diabetes [panelapp] (PAX6)
  • Diabetes mellitus, insulin-dependent (HNF1A)
  • Diabetes mellitus, insulin-dependent, 2 (INS)
  • Diabetes mellitus, insulin-dependent, 20 (HNF1A)
  • Diabetes mellitus, insulin-resistant + acanthosis nigricans (INSR)
  • Diabetes mellitus, neonatal, with congenital hypothyroidism (GLIS3)
  • Diabetes mellitus, noninsulin-dependent (ABCC8)
  • Diabetes mellitus, noninsulin-dependent (HNF4A)
  • Diabetes mellitus, noninsulin-dependent (SLC2A2)
  • Diabetes mellitus, noninsulin-dependent, 2 (HNF1A)
  • Diabetes mellitus, noninsulin-dependent, association with (WFS1)
  • Diabetes mellitus, noninsulin-dependent, late onset (GCK)
  • Diabetes mellitus, permanent neonatal 1 (GCK)
  • Diabetes mellitus, permanent neonatal 3, +/- neurologic features (ABCC8)
  • Diabetes mellitus, permanent neonatal 4 (INS)
  • Diabetes mellitus, transient neonatal 1 (ZFP57)
  • Diabetes mellitus, transient neonatal 2 (ABCC8)
  • Diabetes mellitus, transient neonatal 3 (KCNJ11)
  • Diabetes mellitus, type 2, susceptibility to (KCNJ11)
  • Diabetes mellitus, type II (AKT2)
  • Diabetes mellitus, type II, susceptibility to (PDX1)
  • Diabetes, mellitus, insulin-dependent, susceptibility to, 10 (IL2RA)
  • Diabetes, permanent neonatal 2, with or without neurologic features (KCNJ11)
  • Diabetes, type 2 (PPARG)
  • Diarrhea 4, malabsorptive, congenital (NEUROG3)
  • Dystonia 9 (SLC2A1)
  • Encephalopathy, progressive, +/- lipodystrophy (BSCL2)
  • Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Erythrocyte lactate transporter defect (SLC16A1)
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
  • Fanconi-Bickel syndrome (SLC2A2)
  • Fructose intolerance, hereditary (ALDOB)
  • Fructose-1,6-bisphosphatase deficiency (FBP1)
  • Fructosuria (KHK)
  • Fucosidosis (FUCA1)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • GM1-gangliosidosis, type I (GLB1)
  • GM1-gangliosidosis, type II (GLB1)
  • GM1-gangliosidosis, type III (GLB1)
  • Galactokinase deficiency with cataracts (GALK)
  • Galactose epimerase deficiency (GALE)
  • Galactosemia (GALT)
  • Galactosialidosis (CTSA)
  • Glucose/galactose malabsorption (SLC5A1)
  • Glycerol kinase deficiency (GK)
  • Glycogen storage disease 0, liver (GYS2)
  • Glycogen storage disease 0, muscle (GYS1)
  • Glycogen storage disease II (GAA)
  • Glycogen storage disease IIIa (AGL)
  • Glycogen storage disease IIIb (AGL)
  • Glycogen storage disease IV (GBE1)
  • Glycogen storage disease IXc (PHKG2)
  • Glycogen storage disease Ia (G6PC1)
  • Glycogen storage disease Ib (SLC37A4)
  • Glycogen storage disease Ic (SLC37A4)
  • Glycogen storage disease VI (PYGL)
  • Glycogen storage disease VII (PFKM)
  • Glycogen storage disease X (PGAM2)
  • Glycogen storage disease XI (LDHA)
  • Glycogen storage disease XII (ALDOA)
  • Glycogen storage disease XIII (ENO3)
  • Glycogen storage disease XV (GYG1)
  • Glycogen storage disease, type IXa1 (PHKA2)
  • Glycogen storage disease, type IXa2 (PHKA2)
  • Hemolytic anemia due to triosephosphate isomerase deficiency (TPI1)
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency (GPI)
  • Histiocytosis-lymphadenopathy plus syndrome (SLC29A3)
  • Hutchinson-Gilford progeria (LMNA)
  • Hyperammonemia due to carbonic anhydrase VA deficiency (CA5A)
  • Hyperinsulinemic hypoglycemia, familial, 1 (ABCC8)
  • Hyperinsulinemic hypoglycemia, familial, 2 (KCNJ11)
  • Hyperinsulinemic hypoglycemia, familial, 3 (GCK)
  • Hyperinsulinemic hypoglycemia, familial, 5 (INSR)
  • Hyperinsulinemic hypoglycemia, familial, 7 (SLC16A1)
  • Hyperoxaluria, primary, type 1 (AGXT)
  • Hyperoxaluria, primary, type II (GRHPR)
  • Hyperoxaluria, primary, type III (HOGA1)
  • Hyperphenylalaninemia, BH4-deficient, D (PCBD1)
  • Hyperproinsulinemia (INS)
  • Hypoglycemia of infancy, leucine-sensitive (ABCC8)
  • Hypoinsulinemic hypoglycemia with hemihypertrophy (AKT2)
  • Immunodeficiency 41 with lymphoproliferation + autoimmunity (IL2RA)
  • Immunodeficiency, common variable, 8, with autoimmunity (LRBA)
  • Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
  • Insulin resistance, severe, digenic (PPARG)
  • Kanzaki disease (NAGA)
  • Lactase deficiency, congenital (LCT)
  • Lactase persistence + nonpersistence (MCM6)
  • Leprechaunism (INSR)
  • Lipodystrophy, congenital generalized, type 1 (AGPAT2)
  • Lipodystrophy, congenital generalized, type 2 (BSCL2)
  • Lipodystrophy, familial partial, type 2 (LMNA)
  • Lipodystrophy, familial partial, type 3 (PPARG)
  • Lipodystrophy, familial partial, type 4 (PLIN1)
  • MEHMO [ment. ret., epilepsy, hypogonad./-genital., microceph., obesity] syndrome (EIF2S3)
  • MODY, type I (HNF4A)
  • MODY, type II (GCK)
  • MODY, type III (HNF1A)
  • MODY, type IV (PDX1)
  • Malouf syndrome (LMNA)
  • Mandibular hypoplasia, deafness, progeroid features, lipodystrophy syndrome (POLD1)
  • Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
  • Mannosidosis, alpha-, types I + II (MAN2B1)
  • Mannosidosis, beta (MANBA)
  • Maturity-onset diabetes of the young 6 (NEUROD1)
  • Maturity-onset diabetes of the young, type 10 (INS)
  • Maturity-onset diabetes of the young, type 13 (KCNJ11)
  • Maturity-onset diabetes of the young, type 14 (APPL1)
  • Maturity-onset diabetes of the young, type VIII (CEL)
  • McArdle disease (PYGM)
  • Microcephaly, epilepsy + diabetes syndrome (IER3IP1)
  • Microcephaly, short stature + impaired glucose metabolism 1 (TRMT10A)
  • Microcephaly, short stature + impaired glucose metabolism 2 (PPP1R15B)
  • Mitchell-Riley syndrome (RFX6)
  • Monocarboxylate transporter 1 deficiency (SLC16A1)
  • Mucopolysaccharidosis II (IDS)
  • Mucopolysaccharidosis IVA (GALNS)
  • Mucopolysaccharidosis Ih (IDUA)
  • Mucopolysaccharidosis Ih/s (IDUA)
  • Mucopolysaccharidosis Is (IDUA)
  • Mucopolysaccharidosis type IIIA, Sanfilippo A (SHSH)
  • Mucopolysaccharidosis type IIIB (Sanfilippo B (NAGLU)
  • Mucopolysaccharidosis type IIIC, Sanfilippo C (HGSNAT)
  • Mucopolysaccharidosis type IIID (GNS)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
  • Mucopolysaccharidosis type VI, Maroteaux-Lamy (ARSB)
  • Muscle glycogenosis (PHKA1)
  • Neonatal diabetes + additional multi-organ autoimmunity [panelapp] (STAT3)
  • Neonatal diabetes mellitus [MONDO:0016391] (NKX2-2)
  • Neonatal diabetes, pancreatic agenesis and/or congenital heart defects [panelapp] (GATA4)
  • Neuropathy, distal hereditary motor, type VC (BSCL2)
  • Obesity, resistance to (PPARG)
  • Obesity, severe (PPARG)
  • Pancreatic + cerebellar agenesis (PTF1A)
  • Pancreatic agenesis + congenital heart defects (GATA6)
  • Pancreatic agenesis 1 (PDX1)
  • Pancreatic agenesis 2 (PTF1A)
  • Pentosuria (DCXR)
  • Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCK1)
  • Phosphoglycerate kinase 1 deficiency (PGK1)
  • Phosphorylase kinase deficiency of liver + muscle, AR (PHKB)
  • Polyglucosan body disease, adult form (GBE1)
  • Polyglucosan body myopathy 1 with/-out immunodeficiency (RBCK1)
  • Polyglucosan body myopathy 2 (GYG1)
  • Primrose syndrome (ZBTB20)
  • Pyruvate carboxylase deficiency (PC)
  • Rabson-Mendenhall syndrome (NSR)
  • Renal cysts + diabetes syndrome (HNF1B)
  • Renal glucosuria (SLC5A2)
  • Ribose 5-phosphate isomerase deficiency (RPIA)
  • SHORT syndrome [partial lipodystrophy, Rieger anomaly + short stature] (PIK3R1)
  • Schindler disease, type I + III (NAGA)
  • Sialidosis, type I + II (NEU1)
  • Silver spastic paraplegia syndrome (BSCL2)
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
  • Sucrase-isomaltase deficiency, congenital (SI)
  • Syndromic neonatal diabetes, sev. developm. delay, hypotonia, cort. blindness, hearing loss (NKX2-2)
  • Thiamine-responsive megaloblastic anemia syndrome (SLC19A2)
  • Transaldolase deficiency (TALDO1)
  • Trehalase deficiency (TREH)
  • Type 2 diabetes mellitus (HNF1B)
  • Type 2 diabetes mellitus, susceptibility to (NEUROD1)
  • Wolcott-Rallison syndrome (EIF2AK3)
  • Wolfram syndrome 1 (WFS1)
  • Wolfram syndrome 2 (CISD2)
  • Wolfram-like syndrome, AD (WFS1)
  • Woodhouse-Sakati syndrome (DCAF17)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

Test-Stärken

  • DAkkS-akkreditiertes Labor
  • EU-Richtlinie für IVD in Umsetzung
  • Qualitäts-kontrolliert arbeitendes Personal
  • Leistungsstarke Sequenzierungstechnologien, fortschrittliche Target-Anreicherungsmethoden und Präzisions-Bioinformatik-Pipelines sorgen für überragende analytische Leistung
  • Sorgfältige Kuratierung klinisch relevanter und wissenschaftlich begründeter Gen-Panels
  • eine Vielzahl nicht Protein-kodierender Varianten, die in unseren klinischen NGS-Tests mit erfasst werden
  • unser strenges Variantenklassifizierungsschema nach ACMG-Kriterien
  • unser systematischer klinischer Interpretations-Workflow mit proprietärer Software ermöglicht die genaue und nachvollziehbare Verarbeitung von NGS-Daten
  • unsere umfassenden klinischen Aussagen

Testeinschränkungen

  • Gene mit eingeschränkter Abdeckung werden gekennzeichnet
  • Gene mit kompletten oder partiellen Duplikationen werden gekennzeichnet
  • es wird angenommen, dass ein Gen suboptimal abgedeckt ist, wenn >90% der Nukleotide des Gens bei einem Mapping-Qualitätsfaktor von >20 (MQ>20) nicht abgedeckt sind
  • die Sensitivität der Diagnostik zur Erkennung von Varianten mit genannten Testeinschränkungen ist möglicherweise begrenzt bei:
  • Gen-Konversionen
  • komplexe Inversionen
  • Balancierte Translokationen
  • Mitochondriale Varianten
  • Repeat-Expansionen, sofern nicht anders dokumentiert
  • nicht kodierende Varianten, die Krankheiten verursachen, die von diesem Panel nicht mit abgedeckt werden
  • niedriger Mosaik-Status
  • Repeat-Blöcke von Mononukleotiden
  • Indels >50bp (Insertionen-Deletionen)
  • Deletionen oder Duplikationen einzelner Exons
  • Varianten innerhalb von Pseudogenen
  • die analytische Sensitivität kann geringer ausfallen werden, wenn die DNA nicht von amedes genetics extrahiert wurde

Laboratory requirement

  • Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.

  • Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.

  • Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.

  • Die Untersuchung wird auch für Selbstzahler angeboten.