Deutsch
IllnessMamma aplasia / hypoplasia
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| PTPRF | 5724 | NM_002840.5 | AR |
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