Cowden syndrome

PTEN - Cowden syndrome

This test is available for the following conditions:

• Conditions > Intellectual Disability > Cowden syndrome
• Conditions > Skin > Cowden syndrome
• Conditions > Oncogenetics > Cowden 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

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