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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.

TO SEND A SPECIMEN FOR CONSULTATION

TESTS:
Select a test to view Test Description & Clinical Indications
TEST CODES:
Select a Test Code to view Test Specimen Collection Instructions
ALPHA THALASSEMIA, BLOOD ATHAL
ALPHA THALASSEMIA, NON-BLOOD FATHAL
AML PROGNOSIS ASSAY, BLOOD AMLP
AML PROGNOSIS ASSAY, NON-BLOOD BMAML
B-CELL CLONALITY BY PCR ,BLOOD BCLON
B-CELL CLONALITY, NON-BLOOD BMBCLO
BCR-ABL KINASE DOMAIN MUTATION ANALYSIS, BLOOD BCRKDM
BCR-ABL KINASE DOMAIN MUTATION ANALYSIS, NON-BLOOD NBCRKDM
BCR-ABL, BLOOD BCRQT
BCR-ABL, NON-BLOOD BMBCRQ
BETA THALASSEMIA SEQUENCING, BLOOD BTHSQ
BETA THALASSEMIA SEQUENCING, NON-BLOOD FBTHSQ
BIOTINIDASE SEQUENCING ASSAY BIOSA
BRAF, BLOOD BRAF
BRAF, NON-BLOOD NBRAF
CALRETICULIN MUTATION DETECTION, BLOOD CALR
CALRETICULIN MUTATION DETECTION, NON-BLOOD NCALR
CDH1 BY SEQUENCING (FAMILIAL GASTRIC CANCER) CDH1
CDH1 MLPA, BLOOD CDMLPA
CEBPA, BLOOD CEBPA
CEBPA, NON-BLOOD BMCEBP
CF POLY-T ANALYSIS, BLOOD CFPT
CF POLY-T ANALYSIS, NON-BLOOD NCFPT
CFTR DELETION/DUPLICATION ANALYSIS BY MLPA CFMLPA
CFTR SCREEN BY SEQUENCING CFSS
CONNEXIN 26 SEQUENCING, BLOOD CX26S
CONNEXIN 26 SEQUENCING, NON-BLOOD FCX26S
CONNEXIN 30, BLOOD CX30
CONNEXIN 30, NON-BLOOD NCX30
CYSTIC FIBROSIS DIAGNOSTIC SEQUENCING ASSAY, BLOOD CFDS
CYSTIC FIBROSIS DIAGNOSTIC SEQUENCING ASSAY, NON-BLOOD NCFDS
CYSTIC FIBROSIS MUTATION STUDY (CF), BLOOD CF32
CYSTIC FIBROSIS MUTATION STUDY (CF), NON BLOOD NCF32
DUCHENNE AND BECKER MUSCULAR DYSTROPHIES BY MLPA DBMLPA
EGFR, BLOOD EGFR
EGFR, NON-BLOOD NEGFR
FACTOR V LEIDEN, BLOODLEID
FRAGILE X FRAGX
HEME-STAMP (STANFORD ACTIONABLE MUTATION PANEL FOR HEMATOPOIETIC AND LYMPHOID NEOPLASMS) HSTAMP, HSTAMPB
HEMOCHROMATOSIS GENOTYPING ASSAY HCHGA
IDH1 AND IDH2 MUTATION ANALYSIS LABIDH
JANUS KINASE 2 V617F MUTATION, BLOOD JAK2
JANUS KINASE 2 V617F MUTATION, NON-BLOOD NJAK2
KIT D816V MUTATION BY AS-PCR, BLOOD D816V
KIT D816V MUTATION BY AS-PCR, NON-BLOOD ND816V
KIT SEQUENCING (EXONS 8 AND 17), BLOOD CKITMU
KIT SEQUENCING (EXONS 8 AND 17), NON-BLOOD NCKIT
KRAS / NRAS MUTATION ANALYSIS RAS
MATERNAL CELL CONTAMINATION, FETAL SAMPLE FMCC
MATERNAL CELL CONTAMINATION, MATERNAL SAMPLE MCC
MGMT PROMOTER METHYLATION, BLOOD MGMTB
MGMT PROMOTER METHYLATION, NON-BLOOD MGMT
MICROSATELLITE INSTABILITY TMSI
MYD88 MUTATION ANALYSIS, BLOOD MYD88
MYD88 MUTATION ANALYSIS, NON BLOOD NMYD88
PENDRED SYNDROME, BLOOD PDS
PENDRED SYNDROME, NON-BLOOD NPDS
PML/RARA, QUANTITATIVE, BLOOD T1517
PML/RARA, QUANTITATIVE, NON-BLOOD BM1517
POLE MUTATION DETECTION BY SNaPshot LABPOLE
PROTHROMBIN-20210A MUTATION, BLOOD P20210
SF3B1 BY SEQUENCING, BLOOD SF3B1
SF3B1 BY SEQUENCING, NON-BLOOD NSF3B1
STANFORD SOLID TUMOR ACTIONABLE MUTATION PANEL STAMP
T-CELL CLONALITY BY PCR REFLEX TO TCR-BETA (TCRB) REARRANGEMENTS, BLOOD TCLON
T-CELL CLONALITY BY PCR REFLEX TO TCR-BETA (TCRB) REARRANGEMENTS, NON-BLOOD BMTCLO
VH HYPERMUTATION, BLOOD VHHA
VH HYPERMUTATION, NON-BLOOD NVHHA

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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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