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

IllnessUlna-mamma syndrome

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Ulna-Mamma syndrome

ID
US0040
Number of genes
1 Accredited laboratory test
Examined sequence length
2,2 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-GReferenz-Seq.Heredity
TBX32172NM_005996.4AD

Informations about the disease

Clinical Comment

Developmental disorder with ulnar defects, mammary + apocrine gland hypoplasia + genital anomalies; delayed puberty, dental anomalies, short stature + obesity

 

Synonyms
  • Alias: (Pallister) ulnar-mammary syndrome (TBX3)
  • Alias: Schinzel syndrome (TBX3)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined