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Molecular Genetic Pathology

Section Director: James Zehnder, M.D.
Assistant Director: Christian Kunder, M.D., Ph.D.
Assistant Director: Carlos Suarez, 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 IndicationsTEST CODES:
Select a Test Code to view Test Specimen Collection Instructions
A/HYPOCHONDROPLASIA, BLOODCHON
A/HYPOCHONDROPLASIA, NON-BLOODFCHON
ALPHA THALASSEMIA, BLOODATHAL
ALPHA THALASSEMIA, NON-BLOODFATHAL
AML PROGNOSIS ASSAY, BLOODAMLP
AML PROGNOSIS ASSAY, NON-BLOODBMAML
B-CELL CLONALITY BY PCR ,BLOODBCLON
B-CELL CLONALITY, NON-BLOODBMBCLO
BCR-ABL KINASE DOMAIN MUTATION ANALYSIS, BLOODBCRKDM
BCR-ABL KINASE DOMAIN MUTATION ANALYSIS, NON-BLOODNBCRKDM
BCR-ABL, BLOODBCRQT
BCR-ABL, NON-BLOODBMBCRQ
BETA THALASSEMIA SEQUENCING, BLOODBTHSQ
BETA THALASSEMIA SEQUENCING, NON-BLOODFBTHSQ
BIOTINIDASE SEQUENCING ASSAYBIOSA
BRAF, BLOODBRAF
BRAF, NON-BLOODNBRAF
CALRETICULIN MUTATION DETECTION, BLOODCALR
CALRETICULIN MUTATION DETECTION, NON-BLOODNCALR
CDH1 BY SEQUENCING (FAMILIAL GASTRIC CANCER)CDH1
CDH1 MLPA, BLOODCDMLPA
CEBPA, BLOODCEBPA
CEBPA, NON-BLOODBMCEBP
CF POLY-T ANALYSIS, BLOODCFPT
CF POLY-T ANALYSIS, NON-BLOODNCFPT
CFTR DELETION/DUPLICATION ANALYSIS BY MLPACFMLPA
CFTR SCREEN BY SEQUENCINGCFSS
CONNEXIN 26 SEQUENCING, BLOODCX26S
CONNEXIN 26 SEQUENCING, NON-BLOODFCX26S
CONNEXIN 30, BLOODCX30
CONNEXIN 30, NON-BLOODNCX30
CYSTIC FIBROSIS DIAGNOSTIC SEQUENCING ASSAY, BLOODCFDS
CYSTIC FIBROSIS DIAGNOSTIC SEQUENCING ASSAY, NON-BLOODNCFDS
CYSTIC FIBROSIS MUTATION STUDY (CF), BLOODCF32
CYSTIC FIBROSIS MUTATION STUDY (CF), NON BLOODNCF32
DUCHENNE AND BECKER MUSCULAR DYSTROPHIES BY MLPADBMLPA
EGFR, BLOODEGFR
EGFR, NON-BLOODNEGFR
FACTOR V LEIDEN, BLOODLEID
FGFR1 CRANIOSYNOSTOSIS, BLOODFGFR1
FGFR1 CRANIOSYNOSTOSIS, NON-BLOODFFGFR1
FGFR2 CRANIOSYNOSTOSIS, BLOODFGFR2
FGFR2 CRANIOSYNOSTOSIS, NON-BLOODFFGFR2
FGFR3 MUENKE, BLOODFGFR3
FGFR3 MUENKE, NON-BLOODFFGFR3
FRAGILE XFRAGX
HEMOCHROMATOSIS GENOTYPING ASSAYHCHGA
HUNTINGTON'S DISEASE ANALYSIS BY PCRHUNT
IDH1 AND IDH2 MUTATION ANALYSISLABIDH
JANUS KINASE 2 V617F MUTATION, BLOODJAK2
JANUS KINASE 2 V617F MUTATION, NON-BLOODNJAK2
KIT D816V MUTATION BY AS-PCR, BLOODD816V
KIT D816V MUTATION BY AS-PCR, NON-BLOODND816V
KIT SEQUENCING (EXONS 8 AND 17), BLOODCKITMU
KIT SEQUENCING (EXONS 8 AND 17), NON-BLOODNCKIT
KRAS / NRAS MUTATION ANALYSISRAS
MATERNAL CELL CONTAMINATION, FETAL SAMPLEFMCC
MATERNAL CELL CONTAMINATION, MATERNAL SAMPLEMCC
MGMT PROMOTER METHYLATION, BLOODMGMTB
MGMT PROMOTER METHYLATION, NON-BLOODMGMT
MICROSATELLITE INSTABILITYTMSI
MYD88 MUTATION ANALYSIS, BLOODMYD88
MYD88 MUTATION ANALYSIS, NON BLOODNMYD88
MYELOID NEXT GENERATION SEQUENCING ASSAY, BLOODLABMYEL
MYELOID NEXT GENERATION SEQUENCING ASSAY, NON-BLOODLABNMYEL
PENDRED SYNDROME, BLOODPDS
PENDRED SYNDROME, NON-BLOODNPDS
PML/RARA, QUANTITATIVE, BLOODT1517
PML/RARA, QUANTITATIVE, NON-BLOODBM1517
PRADER-WILLI SYNDROMEPWS
PROTHROMBIN-20210A MUTATION, BLOODP20210
SF3B1 BY SEQUENCING, BLOODSF3B1
SF3B1 BY SEQUENCING, NON-BLOODNSF3B1
STANFORD SOLID TUMOR ACTIONABLE MUTATION PANELSTAMP
T-CELL CLONALITY BY PCR REFLEX TO TCR-BETA (TCRB) REARRANGEMENTS, BLOODTCLON
T-CELL CLONALITY BY PCR REFLEX TO TCR-BETA (TCRB) REARRANGEMENTS, NON-BLOODBMTCLO
VH HYPERMUTATION, BLOODVHHA
VH HYPERMUTATION, NON-BLOODNVHHA

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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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