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Molecular Genetic Pathology

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Director: Iris Schrijver, M.D.
Director: James Zehnder, M.D.

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.

Available Tests

TESTS:
Select a Test to view Test Description &
Clinical Indications
TEST CODES:
Select a Test Code to view Test Specimen Collection Instructions
A/Hypochondroplasia CHON
A/Hypochondroplasia, Amniotic Fluid FCHON
Alpha Thalassemia, Amniotic Fluid FATHAL
Alpha Thalassemia, Blood ATHAL
Alpha Thalassemia, Tissue TATHAL
AML Prognosis Assay, Blood AMLP
AML Prognosis Assay, Bone Marrow BMAML
Ashkenazi Jewish Panel (Canavan Screen, Tay Sach Screen, Familial Dysautonomia Screen, Fanconi Anemia Screen) ASH1
Ashkenazi Jewish Panel Extended ASHEXT
B-Cell Clonality, Blood BCLON
B-Cell Clonality, Bone Marrow BMBCLO
B-Cell Clonality, Fluid FBCLO
B-Cell Clonality, Tissue TBCLO
BCR-ABL, Blood BCRABL
BCR-ABL, Bone Marrow BMBCR
BCR-ABL Kinase Domain Mutation Analysis BCRKDM
BCR-ABL, Quantitative, Blood BCRQT
BCR-ABL, Quantitative, Bone Marrow BMBCRQ
BCR-ABL, Quantitative, Fluid FBCRQT
BCR-ABL, Tissue TBCR
BCR-ABL, Tissue, Quantiative TBCRQT
Beta Thalassemia Sequencing BTHSQ
Beta Thalassemia Sequencing, Amniotic Fluid FBTHSQ
CF Poly-T Analysis CFPT
Connexin 26 Sequencing, Blood CX26S
Connexin 26 Sequencing, Fluid FCX26S
Connexin 30 CX30
Cystic Fibrosis Mutation Study, Whole Blood CF32
Cystic Fibrosis Mutation Study, Non-Blood NCF32
Duchenne-Becker Muscular Dystrophy DBMD
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 JAK2
Janus Kinase 2 V617F Mutation, Non-Blood NJAK2
Maternal Cell Contaminated Tissue (chorionic villi) TMCC
Maternal Cell Contamination MCC
Methylenetetrahydrofolate Reductase, Whole Blood MTHFR
Microsatellite Instability TMS
Pendred Syndrome PDS
Prader Willi Syndrome PWS
T (11;14) Blood By PCR T1114
T (11;14) By PCR, Bone Marrow BM1114
T(11;14) Fluid By PCR FT1114
T(11:14) By PCR, Tissue TT1114
T (14;18) Blood T1418
T(14;18) Bone Marrow BM1418
T(14;18) Fluid FT1418
T(14:18) By PCR, Tissue TT1418
T(15:17) PML-RAR, Blood T1517
T(15;17) PML-RAR, Bone Marrow, PCR BM1517
T(15;17) PML-RAR, Fluid, PCR FT1517
T(15;17) PML-RAR, Tissue TT1517
T-Cell Clonality By PCR, Blood TCLON
T-Cell Clonality By PCR, Bone Marrow BMTCLO
T-Cell Clonality By PCR, Fluid FTCLO
T-Cell Clonality By PCR, Tissue TTCLO
VH Hypermutation, Non-Blood NVHHA
VH Hypermutation VHHA

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Hours
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.

 
 


 
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