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

IllnessLarsen syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Larsen syndrome comprising 6 core/core candidate genes and altogether 8 curated genes according to the clinical signs

ID
LP0090
Number of genes
6 Accredited laboratory test
Examined sequence length
14,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
B3GAT31008AR
BPNT21080AR
CANT11206AR
CHST31440AR
FLNB7809AD
GZF12136AR

Informations about the disease

Clinical Comment

Orofacial clefting with congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges, distinctive craniofacial abnormalities, including cleft palate

 

Synonyms
  • Allelic: Cardiac valvular dysplasia, XL (FLNA)
  • Allelic: Congenital short bowel syndrome (FLNA)
  • Allelic: Heterotopia, periventricular, 1 (FLNA)
  • Allelic: Intestinal pseudoobstruction, neuronal (FLNA)
  • Atelosteogenesis, type I, III (FLNB)
  • Boomerang dysplasia, included (FLNB)
  • Chondrodysplasia with joint dislocations, GPAPP type (IMPAD1)
  • Congenital disorder of glycosylation, type IId (B4GALT1)
  • Desbuquois dysplasia 1 (SCAN1)
  • Epiphyseal dysplasia, multiple, 7 (SCAN1)
  • FG syndrome 2 (FLNA)
  • Frontometaphyseal dysplasia 1 (FLNA)
  • Joint laxity, short stature + myopia (GZF1)
  • Larsen syndrome (FLNB)
  • Melnick-Needles syndrome (FLNA)
  • Otopalatodigital syndrome, type I (FLNA)
  • Otopalatodigital syndrome, type II (FLNA)
  • Spondylocarpotarsal synostosis syndrome (FLNB)
  • Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
  • Terminal osseous dysplasia (FLNA)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q74.8

Bioinformatics and clinical interpretation

No text defined