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Test ID: CYCMS    
21-Hydroxylase Gene (CYP21A2), Full Gene Analysis, Prenatal

Specimen Type Describes the specimen type needed for testing

Varies

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. CYP21A2 Gene Testing Patient Information Sheet (Supply T663) is required and available in Special Instructions

2. Informed Consent for Genetic Testing (Supply T576) is required and available in Special Instructions

3. 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.

 

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing. Contact Kate Kotzer, Genetic Counselor; pager: 507-293-5544; phone: 507-293-0215. 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.

 

Prenatal Specimens

All prenatal specimens must be accompanied by parental blood specimens. The maternal sample is required for maternal cell contamination studies (MCC / Maternal Cell Contamination, Molecular Analysis). Both maternal and paternal samples will be tested for CYP21A2 at no charge, if needed for prenatal interpretation.

 

Maternal whole blood: Order CYPPS / 21-Hydroxylase Gene (CYP21A2), Full Gene Analysis and MCC / Maternal Cell Contamination, Molecular Analysis

Paternal whole blood: Order CYPPS / 21-Hydroxylase Gene (CYP21A2), Full Gene Analysis

 

Submit only 1 of the following acceptable specimens for prenatal testing:

 

Specimen Type: Amniotic fluid

Container/Tube:

Preferred: Screw-capped, sterile centrifuge tubes

Acceptable: T-25 flasks of confluent cultured cells

Specimen Volume: 20 mL

Collection Instructions:

1. Obtain amniotic fluid.

2. Transfer specimen to 2 sterile centrifuge tubes.

3. Specimen cannot be frozen.

Specimen Stability Information: Refrigerated (preferred)/Ambient

Additional Information:

1. A separate culture charge will be assessed under AFC / Amniotic Fluid Culture for Genetic Testing.

2. Alternatively, we will accept 2 T-25 flasks of confluent cultured cells from another laboratory sent refrigerated.

 

Specimen Type: Chorionic villi

Container/Tube:

Preferred: 15-mL centrifuge tube

Acceptable: T-25 flasks of confluent cultured cells

Specimen Volume: 20 mg

Collection Instructions:

1. Obtain chorionic villus specimen.

2. Send specimen in transport media in 15-mL centrifuge tube.

3. Specimen cannot be frozen.

Specimen Stability Information: Refrigerated (preferred)

Additional Information:

1. A separate culture charge will be assessed under FBC / Fibroblast Culture for Genetic Testing.

2. Alternatively, we will accept 2 T-25 flasks of confluent cultured cells from another laboratory sent refrigerated.

 

Specimen Type: Extracted DNA

Container/Tube: Plastic microtube

Specimen Volume: 50 mcL (concentration: > or =80 ng/mcL)

Specimen Stability Information: Refrigerated (preferred)/Ambient

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.

DNA: 50 mcL/Amniotic Fluid: 10 mL/ Chorionic Villus: 5 mg

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

Note: No specimen should be rejected. If specimen not received at appropriate temperature or in wrong anticoagulant, include note to laboratory. If questions, contact laboratory.

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
VariesRefrigerated (preferred)
 Ambient 
 Frozen