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Klinische FragestellungNephrolithiasis, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Nephrolithiasis mit 10 Leitlinien-kuratierten sowie insgesamt 35 kuratierten Genen

ID
NP0610
Anzahl Gene
32 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
35,6 kb (Core-/Core-canditate-Gene)
56,5 kb (Erweitertes Panel: inkl. additional genes)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GReferenz-Seq.Erbgang
AGXT1179NM_000030.3AR
APRT543NM_000485.3AR
ATP6V0A42523NM_020632.3AR
ATP6V1B11542NM_001692.4AR
CA2783NM_000067.3AR
CFTR4443NM_000492.4AR
CLCN52241NM_000084.5XLR
CLDN19675NM_148960.3AR
CYP24A11545NM_000782.5AR
GRHPR987NM_012203.2AR
HOGA1984NM_138413.4AR
HPRT1657NM_000194.3XLR
OCRL2706NM_000276.4XLR
PHEX2250NM_000444.6XL
SLC34A11920NM_003052.5AD, AR
SLC34A31800NM_080877.2AD, AR
SLC3A12058NM_000341.4AD, AR, digenisch
SLC4A12736NM_000342.4AD, AR
XDH4002NM_000379.4AR
BSND963NM_057176.3AR
CASR3237NM_000388.4AD, AR
CLDN16918NM_006580.4AR
FAM20A1212NM_001243746.2AR
HNF4A1359NM_175914.4AD
KCNJ11176NM_000220.6AR
SLC12A13300NM_000338.3AR
SLC22A121560NM_001276326.2AR
SLC2A91536NM_001001290.2AD, AR
SLC7A91464NM_014270.5AD, AR
SLC9A3R11077NM_004252.5AD
STRADA1185NM_001003786.3AR
VPS33B1854NM_018668.5AR

Infos zur Erkrankung

Klinischer Kommentar

ORPHA:1652 Morbus Dent; tubuläre Nierenerkrankung wegen proximaler Tubulusdysfunktion

ORPHA:93622 Morbus Dent Typ 1; Prävalenz: unbekannt (<250 Familien)

ORPHA:93623 Morbus Dent Typ 2; Prävalenz: unbekannt (~20 Fälle)

ORPHA:244305 Dominante Hypophosphatämie mit Nephrolithiasis oder Osteoporose; Prävalenz: <1/1 000 000 (>10 Fälle)

Erhöhtes Risiko bei Patienten mit primärer Hyperoxalurie, Cystiurie, CF, Lesch-Nyhan Syndrom, renal-tubulärer Azidose und Xanthinurie

 

Synonyme
  • Allelic: Diabetes mellitus, noninsulin-dependent (HNF4A)
  • Allelic: Epilepsy idiopathic generalized, susceptibility to, 8 (CASR)
  • Allelic: MODY, type I (HNF4A)
  • Allelic: Sensorineural deafness with mild renal dysfunction (BSND)
  • Adenine phosphoribosyltransferase deficiency (APRT)
  • Allelic: Bronchiectasis +/- elevated sweat chloride 1, modifier of (CFTR)
  • Allelic: Congenital bilateral absence of vas deferens (CFTR)
  • Allelic: Hypertrypsinemia, neonatal (CFTR)
  • Allelic: Pancreatitis, hereditary (CFTR)
  • Allelic: Sweat chloride elevation without CF (CFTR)
  • Amelogenesis imperfecta, type IG, enamel-renal syndrome (FAM20A)
  • Arthrogryposis, renal dysfunction + cholestasis 1 (VPS33B)
  • Arthrogryposis, renal dysfunction + cholestasis 2 (VIPAS39)
  • Bartter syndrome, type 1 (SLC12A1)
  • Bartter syndrome, type 2 (KCNJ1)
  • Bartter syndrome, type 4a (BSND)
  • Bartter syndrome, types 3 + 4b, digenic (CLCNKB)
  • Cystic fibrosis (CFTR)
  • Cystinuria (SLC3A1)
  • Dent disease 2 (OCRL)
  • Dent syndrome (CLCN5)
  • Distal renal tubular acidosis 1 (SLC4A1)
  • Distal renal tubular acidosis 2 with progressive sensorineural hearing loss (ATP6V1B1)
  • Distal renal tubular acidosis 3, with/-out sensorineural hearing loss (ATP6V0A4)
  • Distal renal tubular acidosis 4 with hemolytic anemia (SLC4A1)
  • Fanconi renotubular syndrome 2 (SLC34A1)
  • Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young (HNF4A)
  • Hypercalcemia, infantile, 1 (CYP24A1)
  • Hypercalcemia, infantile, 2 (SLC34A1)
  • Hyperglycinuria (SLC36A2)
  • Hyperoxaluria, primary, type I (AGXT)
  • Hyperoxaluria, primary, type II (GRHPR)
  • Hyperoxaluria, primary, type III (HOGA1)
  • Hyperparathyroidism, neonatal (CASR)
  • Hyperuricemia, HRPT-related (HPRT1)
  • Hypocalcemia, AD (CASR)
  • Hypocalcemia, AD, with Bartter syndrome (CASR)
  • Hypocalciuric hypercalcemia, type I (CASR)
  • Hypomagnesemia 3, renal (CLDN16)
  • Hypomagnesemia 5, renal, with ocular involvement (CLDN19)
  • Hypomagnesemia 7, renal, +/- dilated cardiomyopathy (RRAGD)
  • Hypophosphatemic rickets, XLD (PHEX)
  • Iminoglycinuria, digenic (SLC36A2)
  • Lesch-Nyhan syndrome (HPRT1)
  • Nephrolithiasis type 1 (CLCN5)
  • Nephrolithiasis, calcium oxalate (SLC26A1)
  • Nephrolithiasis/osteoporosis, hypophosphatemic, 1 (SLC34A1)
  • Osteopetrosis, AR 3, with renal tubular acidosis (CA2)
  • Polyhydramnios, megalencephaly + symptomatic epilepsy (STRADA)
  • Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (CLCN5)
  • Xanthinuria, type I (XDH)
  • Xanthinuria, type II (MOCOS)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AR
  • XL
  • XLR
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatik und klinische Interpretation

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