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

IllnessMamma aplasia / hypoplasia

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Mamma aplasia/hypoplasia

ID
MS7711
Number of genes
1 Accredited laboratory test
Examined sequence length
5,8 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
PTPRF5724NM_002840.5AR

Informations about the disease

Clinical Comment

Congenital absence of breast + nipple (amastia), or nipple or mammary gland (athelia or amazia); unilateral or bilateral and may occur as an isolated malformation or associated with a syndrome or cluster of anomalies

 

Synonyms
  • Alias: Amastia (PTPRF)
  • Alias: Amazia (PTPRF)
  • Alias: Athelia (PTPRF)
  • Breasts and/or nipples, aplasia or hypoplasia of, 2 (PTPRF)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined