Molecular Diagnostics

Molecular Diagnostics Test Requirements Table
 
Call Client Services 804-828-PATH (828-7284); 1-800-363-9234 

It is imperative that you do NOT draw samples on heparinized tubes or from tubing containing heparin since heparin interferes with our testing process

Hematopathology

TEST NAME & TAT

CLINICAL CONDITION

SPECIMEN TYPE

COLLECTION

PROCESSING

SHIPPING

Major t (9;22) quantitative by Real-Time PCR (14 days)

Determination of t(9;22) translocation (Philadelphia chromosome) in CML patients and monitoring

Bone marrow or peripheral blood

Collect 1.0mL of BM or 3.0 mL of PB in EDTA (purple-top) tube

Keep at room temp

Ship overnight at room temperature

Quantitation of e1a2 bcr-abl transcripts (Minor Breakpoint Region) by Real-Time PCR (14 days)

Confirm suspected diagnosis of Acute Lymphoblastic Leukemia; monitoring of minimal residual disease (with chemotherapies and after bone marrow transplantation

Bone marrow or peripheral blood

Collect 1.0mL of BM or 3.0 mL of PB in EDTA (purple-top) tube

Keep at room temp

Ship overnight at room temperature

Engraftment Baseline         (10 days after receipt of Follow-up specimen)

Determine recipient genotype prior to bone marrow transplant

Bone marrow or peripheral blood

Collect 1.0mL of BM or 3.0 mL of PB in EDTA (purple-top) tube

Refrigerate sample 4° C until shipped

Ship on cold packs to maintain temperature

Buccal swab

Swab inner facial cheek

Seal in swab storage envelope and keep at room temp

Ship at room temperature

Engraftment Donor             (10 days after receipt of Follow-up specimen)

Determine donor genotype prior to bone marrow transplant

Bone marrow or peripheral blood

Collect 1.0mL of BM or 3.0 mL of PB in EDTA (purple-top) tube

Refrigerate sample 4° C until shipped

Ship on cold packs to maintain temperature

Buccal swab

Swab inner facial cheek

Seal in swab storage envelope and keep at room temp

Ship at room temperature

Engraftment Follow-up       (10days)

Monitoring for chimerism state following bone marrow engraftment

Bone marrow or peripheral blood

Collect 1.0mL of BM or 3.0 mL of PB in EDTA (purple-top) tube

Refrigerate sample 4° C until shipped

Ship on cold packs to maintain temperature

T-Cell Engraftment Follow-up (10days)

Monitoring for chimerism state following bone marrow engraftment using isolated T cells

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top) tube.  Samples should only be collected Monday – Thursday.

Refrigerate sample 4° C until shipped. T cells must be isolated within 24 hours of collection.

 

Ship on cold packs to maintain temperature

JAK2 by PCR (14 days)

Confirm diagnosis of Polycythemia Vera in patients with increased red cell mass and a low serum erythropoietin level

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top) tube

Refrigerate sample at 4° C until shipped

Ship on cold packs to maintain temperature

B & T-cell clonality by PCR (14 days)

Determination of clonality of B and/or T cells in lymphomas and leukemias

Bone marrow or peripheral blood

Collect 1.0mL of BM or 3.0 mL of PB in EDTA (purple –top) or ACD (yellow-top) tube

Refrigerate sample 4° C until shipped

Ship on cold packs to maintain temperature

Frozen tissue

Biopsy or excise sample

Snap freeze and hold in liquid nitrogen

Ship on dry ice

t (14;18) translocation by PCR

(21 days)

Determination of t(14;18) translocation in B-cell lymphoma; diagnosis of follicular lymphoma, minimal residual disease

Paraffin section

None

Cut 2-6 ribbons of 15-20 sections 5 ΅m thick; roll up and place into screw-top tubes provided by MDx lab

Ship in screw top tubes provided by MDx lab

T&B-cell gene rearrangement by Southern blot hybridization analysis (25 days)

Determination of monoclonal rearrangement of B-cell IgH or T-cell surface receptors

Frozen tissue

Biopsy or excised sample

Snap freeze and hold in liquid nitrogen

Ship on dry ice

Bone marrow or peripheral blood

Collect 1.0 mL of BM or 3.0 mL of PB in EDTA (purple-top) or ACD (yellow-top) tube

Refrigerate sample at 4° C

Ship on cold packs to maintain temperature

 

Infectious Diseases

TEST NAME & TAT

CLINICAL CONDITION

SPECIMEN TYPE

COLLECTION

PROCESSING

SHIPPING

BK Virus using real-time PCR (14 days)

Follow-up to kidney transplant

Urine or peripheral blood

10mL plastic tube (no additives) of urine; and/or 3.0 mL EDTA (purple-top) tube of peripheral blood

 For urine

Deliver immediately (within 30 minutes) to lab so that the urine and/or plasma can be frozen until analysis

CMV quantitative (7 days)

Monitoring of CMV viremia in immunocompromised patients

Diagnosis of CMV disease

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top) or PPT (pearl-top) tube

Spin down and pipet off plasma within 4 hrs of collection; place plasma in freezer at –20° C

Ship frozen on dry ice

Epstein Barr Virus (EBV) Quantitative by PCR

(10 days)

Diagnosis and monitoring of patients with Post-Transplant Lymphoproliferative Disorder (PTLD)

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top) or PPT (pearl-top) tube

Spin down and pipet off plasma within 4 hrs of collection; place plasma in freezer at –20° C

Ship frozen on dry ice

HBV quantitative by PCR

(21 days)

Determine ongoing versus resolved HBV infection; monitor response to antiviral therapy

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top) or PPT (pearl-top) tube

Spin down and pipet off plasma within 4 hrs of collection; place plasma in freezer at –20° C

Ship frozen on dry ice

HCV quantitative by PCR

 (14 days)

Monitoring of viremia in patients diagnosed with HCV infection and determination of genotype

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top) or PPT (pearl-top) tube

Spin down and pipet off plasma within 4 hrs of collection; place serum in freezer at –20° C

Ship frozen on dry ice; Contact 828-7284 for pickup or shipping details

HCV genotyping (17 days)

HIV quantitative & HIV Ultrasensitive quantitative by PCR

(14 days)

Monitoring of viremia in patients diagnosed with HIV infection and identification of antiretroviral drug resistance mutations

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top) or PPT (pearl-top) tube

Spin down and pipet off plasma within 4 hrs of collection; place plasma in freezer at –20° C

Ship frozen on dry ice; Contact 828-7284 for pickup or shipping details

HIV genotyping (14 days)

Herpes Simplex Virus (HSV) in Cerebrospinal fluid (CSF) (7 days)

Diagnosis and monitoring in neuropathy when HSV is suspected cause

CSF

A separate tube of CSF should be drawn if at all possible to prevent contamination of the sample

 

Deliver immediately to lab so that it can be frozen until analysis

 

Inherited Diseases

TEST NAME & TAT

CLINICAL CONDITION

SPECIMEN TYPE

COLLECTION

PROCESSING

SHIPPING

CF Carrier Screening

(14 days)

Identify inherited cause of Cystic Fibrosis that affects the respiratory tract, pancreas, intestines, reproductive hepatobiliary system and abnormally thick mucus that could lead to pneumonia, diarrhea, poor growth and infertility.

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top tube)

Refrigerate sample at 4° C until shipped

Ship on cold packs to maintain temperature

Factor V Leiden (10 days)

Determine cause of familial or personal history of hypercoagulability

Peripheral blood

Collect 1 full citrate (blue top) or EDTA (purple top) tube of peripheral blood

Refrigerate sample at 4° C until shipped

Ship on cold packs to maintain temperature

Fragile X testing

(21 days)

Determine fragile X gene mutation as cause or potential cause of mental retardation

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top tube)

Refrigerate sample at 4° C until shipped

Ship on cold packs to maintain temperature

Hereditary pancreatitis
(21 days)

Identify inherited cause of pancreatitis

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top) tube

Refrigerate sample at 4° C until shipped

Ship on cold packs to maintain temperature

Prader-Willi/Angelman syndrome
(21 days)

Identify inherited cause of mental retardation

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top) tube

Refrigerate sample at 4° C until shipped

Ship on cold packs to maintain temperature

Prothrombin G20210A
(10 days)

Determine cause of familial or personal history of hypercoagulability

Peripheral blood

Collect 1 full citrate (blue top) or EDTA (purple top) tube of peripheral blood

Refrigerate sample at 4° C until shipped

Ship on cold packs to maintain temperature

 

Pharmacogenomics

TEST NAME & TAT

CLINICAL CONDITION

SPECIMEN TYPE

COLLECTION

PROCESSING

SHIPPING

Beta-2 Adrenergic Receptor genotyping (10 days)

Optimize therapy of asthma patients with poor symptom control

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top) or citrate (blue-top) tube.

Refrigerate sample at 4° C until shipped

Ship on cold packs to maintain temperature

Warfarin Genotyping
(4 – 7 days)

 

Determining maintenance dosage for patients on oral anticoagulant (Warfarin) used for the prophylaxis of thromboembolic episodes.

Peripheral blood

Collect 3.0 mL of PB in EDTA (purple-top) tube

Refrigerate sample at 4° C until shipped

Ship on cold packs to maintain temperature

 

Updated January 18, 2008