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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessMorbus Gaucher, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Morbus Gaucher comprising 3 guideline-curated genes and altogether 15 curated genes according to the clinical signs.
For specific DD situations supplemental panels are available, e.g. for AR congenital ichthyosis, hydrops fetalis, myoclonic seizures.

ID
GP1000
Number of genes
10 Accredited laboratory test
Examined sequence length
9,4 kb (Core-/Core-canditate-Genes)
19,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GBA11611NM_001005741.3AR
NPC13837NM_000271.5AR
NPC2456NM_006432.5AR
PSAP1575NM_002778.4AR
SMPD11896NM_000543.5AR
ASAH11188NM_177924.5AR
COL2A14464NM_001844.5AD
IDS1653NM_000202.8XLR
IDUA1962NM_000203.5AR
LIPA1200NM_000235.4AR

Informations about the disease

Clinical Comment

Gaucher disease patients do not produce enough glucocerebrosidase, so glucocerebrosides accumulate in so-called Gaucher cells in the liver, spleen, lungs and bone marrow. Bone damage can be particularly painful; in rare cases Gaucher cells can also accumulate in the brain and lead to the more severe form of the disease. Three forms of Gaucher disease are distinguished. Type 1 is the most common form in the western world (90%), usually with a normal lifespan. Symptoms can start at any age with anaemia, bruising, bleeding, pain and growth disturbances. Type 2 disease is very rare and characterised by damage to the central nervous system, which is usually fatal in the first two to four years of life. Although type 2 occurs worldwide, it is very rare. Type 3 is rare in the West, more common in Asia and in a province of Sweden. In this type, the neurological symptoms develop slowly, usually in childhood, and continue into adulthood. Gaucher disease is transmitted autosomal recessively. Virtually all sequence changes in the GBA gene are point mutations that can be fully detected.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1269/

 

Synonyms
  • Alias: Lysosomal storage disorder, deficient activity of beta-glucocerebrosidase
  • Allelic: Combined SAP deficiency (PSAP)
  • Allelic: Krabbe disease, atypical (PSAP)
  • Allelic: Lewy body dementia, susceptibility to (GBA1)
  • Allelic: Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
  • Allelic: Parkinson disease, late-onset, susceptibility to (GBA1)
  • Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
  • DD für Osteonekrose: Morbus Legg-Calvé-Perthes (COL2A1)
  • Farber lipogranulomatosis (ASAH1)
  • GM1-gangliosidosis, type I, II, III (GLB1)
  • Gaucher disease, atypical (PSAP)
  • Gaucher disease, perinatal lethal (GBA1)
  • Gaucher disease, type I (GBA1)
  • Gaucher disease, type II (GBA1)
  • Gaucher disease, type III (GBA1)
  • Gaucher disease, type IIIC (GBA1)
  • Mucolipidosis II alpha/beta (GNPTAB)
  • Mucolipidosis III alpha/beta (GNPTAB)
  • Mucopolysaccharidosis IVA (GALNS)
  • Mucopolysaccharidosis VII (GUSB)
  • Mucopolysaccharidosis type IVB, Morquio (GLB1)
  • Niemann-Pick disease, type A (SMPD1)
  • Niemann-Pick disease, type B (SMPD1)
  • Niemann-Pick disease, type C1 (NPC1)
  • Niemann-Pick disease, type D (NPC1)
  • Niemann-pick disease, type C2 (NPC2)
  • Salla disease (SLC17A5)
  • Sialic acid storage disorder, infantile (SLC17A5)
  • Wolman disease (CESD)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined

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.