Test Name & Code:
• Test Name: PTEN Point Mutations
• Test Code: 3735
• Test Code: 3735
Related Diseases & Genes:
• Bannayan-Riley-Ruvalcaba syndrome (OMIM #: 153480) || Gene: PTEN (OMIM #: 601728)
• Cowden syndrome 1 (OMIM #: 158350)
• Endometrial carcinoma, somatic (OMIM #: 608089)
• Lhermitte-Duclos syndrome (OMIM #: 158350)
• Cowden syndrome 1 (OMIM #: 158350)
• Endometrial carcinoma, somatic (OMIM #: 608089)
• Lhermitte-Duclos syndrome (OMIM #: 158350)
Synonyms:
• PHOSPHATASE AND TENSIN HOMOLOG
• BZS
• DEC
• GLM2
• MHAM
• MMAC1
• BZS
• DEC
• GLM2
• MHAM
• MMAC1
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 3 weeks
• Performed: Everyday
• Reported: 3 weeks
Specimen Details:
• Specimen Collection: Fresh tissue; Paraffin tissue; Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: Tissue (5 cross-sections of 5 um); Blood (> 5 ml)
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: Tissue (5 cross-sections of 5 um); Blood (> 5 ml)
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Oncogenetics
