Jeanna L. Welborn, M.D.

Jeff Gregg, M.D.

Sandra L.S. Hatcher, M.Sc., CLSp(MB)

Molecular and Cytogenetic Laboratory:

The Molecular and Cytogenetic Laboratory is located in room 2101 of the Clinical Laboratory Building. The lab performs molecular analysis of genetic, oncogenic and infectious diseases and cytogenetic analysis for chromosome abnormalities.

The Molecular Pathology laboratory offers the following PCR based tests:

Genetic testing:

a-thalassemia (prenatal only), Cystic Fibrosis, Duchenne/Becker Muscular Dystrophy, Factor V (Leiden) Mutation, Fragile X Hemoglobin A,S,C, Hemoglobin E, Hereditary Hemochromatosis, Methylenetetrahydrofolate Reductase (MTHFR), Prader-Willi syndrome, Prothrombin (G20210A).

Oncology testing:

BCR/ABL Philadelphia chromosome, RARa-APL t(15;17).

Infectious Disease testing:

Clostridium difficile toxin B gene, Herpes Simplex Virus, Human Papillomavirus (HPV), Mycobacterium tuberculosis complex, and Toxoplasma gondii.

The Molecular Pathology laboratory offers the following branched chain DNA (bDNA) tests:

HIV Viral load by bDNA, Hepatitis C Viral load by bDNA, Hepatitus C genotype.

The Cytogenetic laboratory offers analysis of the following specimens:

Peripheral blood, peripheral blood with high resolution banding, amniotic fluid cytogenetics, products of conception, fetal tissue, skin fibroblasts, bone marrow, leukemic peripheral blood, serous effusion, solid tumors.

INSTRUCTIONS:

The laboratory is operated Monday through Friday, 8:00 am to 4:30 pm. See specific tests in the Catalog of Test Procedures in this manual for specimen collection and handling procedures.

REQUISITION:

A requisition form must accompany all labelled specimens. Tests may be ordered from the HIS screen or handwritten on a miscellaneous lab slip. The requisition must include:

1. Patient's name

2. Patient's medical record number

3. Date of collection

4. Requesting physician or genetic counselor

5. Source of sample (i.e., peripheral blood)

6. Test requested

7. Any relevant clinical data or family history

8. Suspected diagnosis

9. Gestational age (if amniotic fluid sample)

GENERAL INSTRUCTIONS:

All clinical specimens must be collected in clean, sterile containers which must be properly sealed.

CRITERIA FOR REJECTION:

1. Specimen inappropriate for test requested.

2. Quantity insufficient for analysis.

3. Specimen collected in inappropriate container.

4. Specimen inappropriately labelled.

If any of these criteria occur, a new specimen will be requested by phone. If a new specimen cannot be obtained, the requesting physician will be consulted.

A. Blood

B. Bone Marrow

C. Cerebrospinal Fluid

D. Amniotic Fluid

E. Chorionic Villus Samples

F. Cultured Amniocytes

G. Back-Up Culture

H. Fresh Tissue

I. Frozen Tissue

J. Other Fluids

Call laboratory at (916) 734-1670 for appropriate sample volume and transport conditions.

SPECIMEN ROUTING FOR MOLECULAR ANALYSIS:

Molecular specimens should be routed through the Specimen and Reporting Center (SARC) to be sent to Clinical Laboratory Building, room 2101. Please label sample to the attention of Molecular and Cytogenetic Laboratory, (916) 734-1670.

A. Blood

B. Bone Marrow

C. Amniotic Fluid

D. Tissue

E. Product of Conception, Fetal Tissue

F. Skin Fibroblasts

SPECIMEN ROUTING FOR CYTOGENETIC ANALYSIS:

Cytogenetic specimens should be routed through the Specimen and Reporting Center (SARC) to be sent to the Clinical Laboratory Building, room 2101. Please label sample to the attention of Molecular and Cytogenetic Laboratory, (916) 734-1670.