PTEN - PTEN hamartoma tumor syndrome
This test is available for the following conditions:
- Conditions > Multiple congenital anomalies (MCA) > PTEN Hamartoma Tumor syndrome
- Conditions > Oncogenetics > PTEN Hamartoma Tumor syndrome
This product is also part of the following panels:
- Hereditary cancer panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Metabolic disorders panel
- panel hereditary renalcancer (SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, PTEN, FLCN, MET, FH, BAP1)
- panel polyposis (APC, MUTYH, SMAD4, BMPR1A, POLE, POLD1, NTHL1, STK11, PTEN)
- Primary immunodeficiencies panel
- Skin disorders panel¹
Turnaround time
Complete analysis & Targeted analysis: 3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
601728
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA