©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessImprinting disturbances, multilocus; differential diagnosis

Request form illness
Order shipping materials

Summary

Short information

Comprehensive differential diagnostic panel for multilocal imprinting defects containing 24 curated genes according to the clinical signs

ID
IP6675
Number of genes
9 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
18,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GNAS1185NM_000516.7; NM_016592.3; NM_080425.3AD
KCNQ12031NM_000218.3AD
KHDC3L654NM_001017361.3AR
NLRP23189NM_017852.5AD, AR
NLRP53603NM_153447.4AD, AR
NLRP73114NM_001127255.1AD, AR
PADI62086NM_207421.4AD, AR
ZFP42934NM_174900.5Impr
ZFP571611NM_001109809.5AR

Informations about the disease

Synonyms
  • Alias: Multilocus imprinting disturbance, MLID
  • ACTH-independent macronodular adrenal hyperplasia (GNAS)
  • Affected tissue: myeloid lineages [panelapp] (L3MBTL)
  • Angelman syndrome (UBE3A)
  • Beckwith-Wiedemann syndrome (CDKN1C)
  • Beckwith-Wiedemann syndrome (KCNQ1OT1)
  • Beckwith-Wiedemann syndrome (KCNQ1OT1, KCNQ1-overlapping transcript)
  • Beckwith-Wiedemann syndrome [panelapp] (H19)
  • Beckwith-Wiedemann syndrome, MLID (NLRP2)
  • Biparental complete hydatidiform mole, Beckwith-Wiedemann syndrome, MLID (NLRP5)
  • Birk-Barel syndrome, mental retardation, hypotonia + characteristic dysmorphism (KCNK9)
  • Developmental delay, dysmorphic features [panelapp] (PEG3)
  • Diabetes mellitus, transient neonatal 1 (ZFP57)
  • Diabetes mellitus, transient neonatal 1 [panelapp] (PLAGL1)
  • Dystonia-11, myoclonic (SGCE)
  • Hydatidiform mole, recurrent, 1 (NLRP7)
  • Hydatidiform mole, recurrent, 2 (KHDC3L)
  • IMAGe syndrome (CDKN1C)
  • Kagami-Ogata syndrome [panelapp] (MEG3)
  • McCune-Albright syndrome, somatic, mosaic (GNAS)
  • Osseous heteroplasia, progressive (GNAS)
  • Phenotype resulting from under expression: lymphoid malignancy [panelapp] (L3MBTL)
  • Prader-Willi syndrome [panelapp] (SNRPN)
  • Precocious puberty, central, 2 (MKRN3)
  • Preimplantation embryonic lethality 2 (PADI6)
  • Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
  • Pseudopseudohypoparathyroidism (GNAS)
  • Schaaf-Yang syndrome (MAGEL2)
  • Silver-Russell syndrome 2 [panelapp] (GRB10, MEST)
  • Silver-Russell syndrome 3 (IGF2)
  • Silver-Russell syndrome [panelapp] (H19)
  • Temple syndrome [panelapp] (MEG3)
  • Wilms tumor 2 [panelapp] (H19)
  • [Reduced expression gene, REX1] (ZFP42)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Impr
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined