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Test ID PGXQP Focused Pharmacogenomics Panel, Varies


Specimen Required


Submit only 1 of the following specimens:

 

Specimen Type: Whole blood

Container/Tube: Lavender top (EDTA)

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


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send 1 of the following forms with the specimen:

-Neurology Specialty Testing Client Test Request (T732)

-Therapeutics Test Request (T831)

-Cardiovascular Test Request (T724)

Useful For

Preemptive or reactive genotyping of patients for pharmacogenomic purposes

 

Providing an assessment for genes with strong drug-gene associations

Method Name

Real Time Polymerase Chain Reaction (RT-PCR) with Allelic Discrimination Analysis/PCR followed by DNA Sequencing, when appropriate

Reporting Name

Focused Pharmacogenomics Panel, V

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

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Friday

Report Available

3 to 14 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PGXQP Focused Pharmacogenomics Panel, V 82118-1

 

Result ID Test Result Name Result LOINC Value
610185 CYP1A2 Genotype 72884-0
610186 CYP1A2 Phenotype 94254-0
610187 CYP2C19 Genotype 57132-3
610188 CYP2C19 Phenotype 79714-2
610570 CYP2C19 Activity Score In Process
610189 CYP2C9 Genotype 46724-1
610190 CYP2C9 Phenotype 79716-7
610571 CYP2C9 Activity Score In Process
610191 CYP2D6 Genotype 40425-1
610192 CYP2D6 Phenotype 79715-9
610572 CYP2D6 Activity Score In Process
610193 CYP3A4 Genotype 81139-8
610194 CYP3A4 Phenotype 81145-5
610195 CYP3A5 Genotype 81140-6
610196 CYP3A5 Phenotype 79717-5
610197 SLCO1B1 Genotype 93412-5
610198 SLCO1B1 Phenotype 79722-5
610199 Warfarin CYP2C9 Genotype 46724-1
610201 Warfarin VKORC1 Resistance Genotype 50722-8
610200 Warfarin VKORC1 Promoter Genotype 50722-8
614000 Warfarin CYP2C9 and VKORC1 Promoter Phenotype 54451-0
610202 Warfarin CYP4F2 *3 Genotype 93197-2
610203 Warfarin rs12777823 Genotype 93198-0
610204 Interpretation 69047-9
610205 Additional Information 48767-8
610206 Method 85069-3
610207 Disclaimer 62364-5
610208 Reviewed by 18771-6

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

Testing Algorithm

If a specimen requires follow-up for CYP2D6, then reflex testing will be performed as appropriate at an additional charge.

 

For more information see CYP2D6 Comprehensive Cascade Testing Algorithm.