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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessWachstumshormonmangel IV

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Growth hormone deficiency type IB, congenital isolated

ID
WS1230
Number of genes
1 Accredited laboratory test
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
- (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-GHeredity
GHRHR1272AR

Informations about the disease

Clinical Comment

AR IGHD type IV: early + severe growth failure (height SDS up to -7.4), a blunted GH response to provocation tests, low insulin-like growth factor-I, low IGF-binding protein-3, good response to GH treatment

 

Synonyms
  • Congenital isolated growth hormone deficiency type IV (GHRHR)
  • Dwarfism of Sindh (GHRHR)
  • Growth hormone deficiency, isolated, type IV (GHRHR)
  • Isolated growth hormone deficiency, type IB (GHRHR)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code
E23.3

Bioinformatics and clinical interpretation

No text defined