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Klinische FragestellungKohlenhydrat-Stoffwechsel-Störungen, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Kohlenhydrat-Stoffwechsel-Störungen mit insgesamt 114 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
OP0030
Anzahl Gene
112 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
14,4 kb (Core-/Core-canditate-Gene)
202,0 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
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
SLC2A11479
  • Keine OMIM-Gs verknüpft
NM_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

Infos zur Erkrankung

Klinischer Kommentar

Gruppe von Erkrankungen

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische 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

Laboranforderung

  • 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.