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Section Director: Iris Schrijver, M.D.
Section Director: James Zehnder, M.D.
Operations Director: Cynthia Samson, MA, MT(ASCP) SH, CLS
General Information
The Stanford Molecular Genetic Pathology Laboratory provides a full range of diagnostic services for inherited genetic disorders, hematolymphoid malignancies, solid tumors, and genetic risk factors. The laboratory performs analyses on the nucleic acids (DNA and/or RNA) in submitted samples. Testing includes: diagnostic assays and carrier screening assays for inherited genetic disorders, as well as prenatal diagnostics. In addition, the laboratory performs assays for thrombophilia risk factors, solid tumors, and for acquired hematolymphoid disorders such as leukemias and lymphomas. Such disorders can also be followed over time, and after therapeutic intervention, to monitor the presence of minimal residual disease or recurrence of a malignancy. Depending on the assay, molecular diagnosis can be performed on blood, bone marrow, body fluids, and fresh, frozen, or paraffin-embedded tissues.
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| TESTS: Select a test to view Test Description & Clinical Indications | TEST CODES:
Select a Test Code to view Test Specimen Collection Instructions |
| A/HYPOCHONDROPLASIA, AMNIOTIC FLUID | FCHON | | A/HYPOCHONDROPLASIA, WHOLE BLOOD | CHON | | ALPHA THALASSEMIA, AMNIOTIC FLUID | FATHAL | | ALPHA THALASSEMIA, BLOOD | ATHAL | | ALPHA THALASSEMIA, TISSUE | TATHAL | | B-CELL CLONALITY BY PCR ,BLOOD | BCLON | | B-CELL CLONALITY BY PCR, BONE MARROW | BMBCLO | | B-CELL CLONALITY BY PCR, FLUID | FBCLO | | B-CELL CLONALITY BY PCR, TISSUE | TBCLO | | BCR-ABL KINASE DOMAIN MUTATION ANALYSIS | BCRKDM | | BCR-ABL, BLOOD | BCRABL | | BCR-ABL, BONE MARROW | BMBCR | | BCR-ABL, QUANTITATIVE, BLOOD | BCRQT | | BCR-ABL, QUANTITATIVE, BONE MARROW | BMBCRQ | | BCR-ABL, QUANTITATIVE, FLUID | FBCRQT | | BCR-ABL, TISSUE | TBCR | | BETA THALASSEMIA SEQUENCING, AMNIOTIC FLUID | FBTHSQ | | BETA THALASSEMIA SEQUENCING, WHOLE BLOOD | BTHSQ | | BIOTINIDASE SEQUENCING ASSAY | BIOSA | | BRAF MUTATION ANALYSIS | BRAF | | CANCER SOMATIC MUTATION PROFILE (TISSUE) | CSMP | | CANCER SOMATIC MUTATION PROFILE (BLOOD) | CSMPB | | CANCER SOMATIC MUTATION PROFILE (BONE MARROW) | CSMPBM | | CEBPA; (BONE MARROW) | BMCEBP | | CEBPA; (PERIPHERAL BLOOD) | CEBPA | | CF POLY-T ANALYSIS | CFPT | | CFTR DELETION/DUPLICATION ANALYSIS BY MLPA | CFMLPA | | CFTR SCREEN BY SEQUENCING | CFSS | | CKIT MUTATION ANALYSIS | CKITMU | | CONNEXIN 26 SEQUENCING, AMNIOTIC FLUID | FCX26S | | CONNEXIN 26 SEQUENCING, BLOOD | CX26S | | CONNEXIN 30 | CX30 | | CYSTIC FIBROSIS DIAGNOSTIC SEQUENCING ASSAY | CFDS | | CYSTIC FIBROSIS MUTATION STUDY, NON BLOOD | NCF32 | | CYSTIC FIBROSIS MUTATION STUDY, WHOLE BLOOD | CF32 | | DUCHENNE AND BECKER MUSCULAR DYSTROPHY | DBMD | | EPIDERMAL GROWTH FACTOR RECEPTOR GENE MUTATION PANEL | EGFRP | | FACTOR II, PROTHROMBIN-20210A MUTATION, WHOLE BLOOD | P20210 | | FACTOR V LEIDEN, WHOLE BLOOD | LEID | | FAMILIAL GASTRIC CANCER | CDH1 | | FGFR1 CRANIOSYNOSTOSIS, BLOOD | FGFR1 | | FGFR2 CRANIOSYNOSTOSIS, BLOOD | FGFR2 | | FGFR3 MUENKE, BLOOD | FGFR3 | | FRAGILE X | FRAGX | | JANUS KINASE 2 V617F MUTATION, BLOOD | JAK2 | | JANUS KINASE 2 V617F MUTATION, NON-BLOOD | NJAK2 | | KIT D816V MUTATION BY AS-PCR, BLOOD | D816V | | KRAS MUTATION DETECTION | KRAS | | MATERNAL CELL CONTAMINATION - AMNIOTIC FLUID | FMCC | | MATERNAL CELL CONTAMINATION - TISSUE | TMCC | | METHYLENETETRAHYDROFOLATE REDUCTASE | MTHFR | | MGMT PROMOTER METHYLATION, BLOOD | MGMTB | | MICROSATELLITE INSTABILITY | TMSI | | NUCLEOPHOSMIN 1 MUTATION ANALYSIS, BLOOD | NPM1 | | NUCLEOPHOSMIN 1 MUTATION ANALYSIS, BONE MORROW | BMNPM1 | | PENDRED SYNDROME | PDS | | PRADER-WILLI SYNDROME | PWS | | PROMOTER METHYLATION DETECTION BY METHYLATION-SPECIFIC PCR | MGMT | | T(11;14) BY PCR, BLOOD | T1114 | | T(11;14) BY PCR, BONE MARROW | BM1114 | | T(11;14) BY PCR, FLUID | FT1114 | | T(11;14) BY PCR, TISSUE | TT1114 | | T(14;18) BY PCR: BONE MARROW | BM1418 | | T(14;18) BY PCR: FLUID | FT1418 | | T(14;18) BY PCR: TISSUE | TT1418 | | T(14;18) BY PCR: WHOLE BLOOD | T1418 | | T(15;17) PML-RAR, PCR: BLOOD | T1517 | | T(15;17) PML-RAR, PCR: BONE MARROW | BM1517 | | T(15;17) PML-RAR, PCR: FLUID | FT1517 | | T(15;17) PML-RAR, PCR: TISSUE | TT1517 | | T-CELL CLONALITY BY PCR REFLEX TO TCR-BETA (TCRB) REARRANGEMENTS - BLOOD | TCLON | | T-CELL CLONALITY BY PCR REFLEX TO TCR-BETA (TCRB) REARRANGEMENTS - BONE MARROW | BMTCLO | | T-CELL CLONALITY BY PCR REFLEX TO TCR-BETA (TCRB) REARRANGEMENTS - FLUID | FTCLO | | T-CELL CLONALITY BY PCR REFLEX TO TCR-BETA (TCRB) REARRANGEMENTS - TISSUE | TTCLO | | VH HYPERMUTATION: BLOOD | VHHA | | VH HYPERMUTATION: NON-BLOOD | NVHHA |
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Specimens are accepted 24 hours a day, seven days a week, except as noted in test specimen requirements.
Consultation Services
We provide a full range of molecular diagnostic and consulting services for adult, pediatric, and prenatal cases. We are committed to provide the highest quality of patient care and serve as competent and easily available consultants to our referring physicians. For consultation services please call Customer Services AT 1-877-717-3733 and request the Molecular Genetic Pathology Laboratory.
Contact Information
Linda Gojenola. CLS
Molecular Biology, Supervisor
(650) 723-6574
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