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Test ID: FIXMS    
Hemophilia B, Factor IX Gene Mutation Screening

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Specimen Type Describes the specimen type needed for testing

Whole blood

Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.

Forms:

1. Hemophilia B Patient Information Sheet (Supply T518) in Special Instructions is required. Please fax the completed form to 1-507-284-8286.

2. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.

 

Specimen Type: Whole Blood

Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: EDTA or sodium citrate

Specimen Volume: 6 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

 

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing. (Contact the Laboratory Genetic Counselor at 1-507-538-1568). Prenatal specimens can be sent Monday through Thursday and must be received by 5 p.m. CST on Friday in order to be processed appropriately. All prenatal specimens must be accompanied by a maternal blood specimen. Order MCC / Maternal Cell Contamination, Molecular Analysis on the maternal specimen.

 

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient

 

Specimen Type: Chorionic villi

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated

 

Acceptable:

Specimen Type: Confluent cultured cells

Container/Tube: T-25 flask

Specimen Volume: 2 flasks

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.

3 mL

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

Hemolysis

Mild OK; Gross OK

Lipemia

Mild OK; Gross OK

Icterus

NA

Other

Green-top (heparin) tube

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.

Specimen TypeTemperatureTime
Whole bloodAmbient (preferred)
 Frozen 
 Refrigerated