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Test Code PGXQP Focused Pharmacogenomics Panel, Varies


Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: None

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 9 days/Refrigerated 30 days

 

Specimen Type: Saliva

Patient Preparation: Patient should not eat, drink, smoke, or chew gum 30 minutes prior to collection.

Supplies: Saliva Swab Collection Kit (T786)

Specimen Volume: 1 Swab

Collection Instructions: Collect and send specimen per kit instructions.

Additional Information: Due to lower concentration of DNA yielded from saliva, testing cannot proceed to reflex testing for 2D6 sequencing and will stop after initial testing is complete.

Specimen Stability Information: Ambient 30 days

 

Specimen Type: Extracted DNA

Container/Tube: 2-mL screw top tube

Specimen Volume: 100 mcL (microliters)

Collection Instructions:

1. The preferred volume is 100 mcL at a concentration of 50 ng/mcL.

2. Provide concentration of DNA and volume on tube.

Specimen Stability Information: Frozen (preferred) 1 year/Ambient/Refrigerated


Genetics Test Information

This test includes targeted testing to evaluate the following genes:

CYP1A2, CYP2C9, CYP2C19, CYP2D6, CYP3A4, CYP3A5, SLCO1B1, VKORC1, CYP4F2, and rs12777823.

 

CYP2D6 testing is done in 2 tiers when needed. Tier 1 uses a polymerase chain reaction (PCR)-based 5'-nuclease assay to determine the variants present. All samples also have copy number determined by PCR-based 5'-nuclease assay. Testing in tier 1 allows for the detection of all common CYP2D6 variants (eg, *2, *3, *4, *5, *6, *7, *8, *9, *10, *17, *29, *35, *41, *59) and rarer alleles such as *11, *12, *14, *15, and *114. Duplications and multiplications of alleles are also identified. Unitary and tandem CYP2D7-2D6 (*13) alleles and CYP2D6-2D7 (eg, *4N, *36, and *68) alleles can also be detected. Tier 2 testing involves sequencing using fluorescent dye-terminator chemistry and is only done if an ambiguous phenotype results from tier 1 testing. Approximately 3% of samples require tier 2 testing.

Specimen Type

Varies

Specimen Minimum Volume

Whole Blood: 1 mL; Saliva, extracted DNA: see Specimen Required

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Report Available

3 to 14 days

Specimen Retention Time

Whole blood/Saliva: 2 weeks; Extracted DNA: 2 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

0029U

0071U (if appropriate)

0072U (if appropriate)

0073U (if appropriate)

0074U (if appropriate)

0075U (if appropriate)

0076U (if appropriate)

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
2D61Z CYP2D6 Full Gene Sequence No, (Bill Only) No
2D62Z CYP2D6 GEN CYP2D6-2D7 Hybrid No, (Bill Only) No
2D63Z CYP2D6 GEN CYP2D7-2D6 Hybrid No, (Bill Only) No
2D64Z CYP2D6 Nonduplicated Gene No, (Bill Only) No
2D65Z CYP2D6 5' Gene DUP/MLT No, (Bill Only) No
2D66Z CYP2D6 3' Gene DUP/MLT No, (Bill Only) No