Sign in →

Test ID PGXFP 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 specimen in original tube.

Specimen Stability Information: Ambient (preferred)/Refrigerated

 

Specimen Type: Saliva

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

Supplies: DNA Saliva Collection Kit (T786)

Container/Tube: Saliva Swab Collection Kit

Specimen Volume: 1 swab

Collection Instructions: Collect and send specimen per kit instructions.

Specimen Stability Information: Ambient

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 Type: 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. Include concentration and volume on tube.

Specimen Stability Information: Frozen (preferred)/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 in Special Instructions:

-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)

-Pharmacogenomics Test Request (T797)

-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

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 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) and rarer alleles such as *11, *12, *14A, *14B, and *15. 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.

Testing Algorithm

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

 

See CYP2D6 Comprehensive Cascade Testing Algorithm in Special Instructions.

Method Name

Real Time Polymerase Chain Reaction (RT-PCR) with Allelic Discrimination Analysis with Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis when appropriate

Reporting Name

Focused Pharmacogenomics Panel

Specimen Type

Varies

Specimen Minimum Volume

Blood: 1 mL
Saliva: 1 swab

Specimen Stability Information

Specimen Type Temperature Time
Varies Varies

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Friday; 8 a.m.

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. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

0029U

 

2D6S1-2D6S6 reflex tests

0071U-0076U (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PGXFP Focused Pharmacogenomics Panel 82118-1

 

Result ID Test Result Name Result LOINC Value
BA0902 Medications 52418-1
BA0903 Amitriptyline 83010-9
BA0904 Aripiprazole 83010-9
BA0905 Atomoxetine 83010-9
BA0906 Atorvastatin 83010-9
BA0914 Brexpiprazole 83010-9
BA0907 Carvedilol 83010-9
BA0915 Carisoprodol 83010-9
BA0908 Celecoxib 83010-9
BA0909 Citalopram 83010-9
BA0152 Clobazam 69047-9
BA0910 Clomipramine 83010-9
BA0911 Clopidogrel 83010-9
BA0912 Codeine 83010-9
BA0913 Desipramine 83010-9
BA0263 Dexlansoprazole 69047-9
BA0235 Dextromethorphan 69047-9
BA0916 Diclofenac 83010-9
BA0917 Doxepin 83010-9
BA0233 Eliglustat 69047-9
BA0918 Escitalopram 83010-9
BA0919 Esomeprazole 83010-9
BA0244 Flecainide 69047-9
BA0920 Fluoxetine 83010-9
BA0921 Fluvoxamine 83010-9
BA0922 Fosphenytoin 83010-9
BA0245 Haloperidol 69047-9
BA1630 Iloperidone 83010-9
BA0923 Imipramine 83010-9
BA0924 Lansoprazole 83010-9
BA0925 Metoprolol 83010-9
BA0926 Nortriptyline 83010-9
BA0927 Omeprazole 83010-9
BA0928 Ondansetron 83010-9
BA0929 Oxycodone 83010-9
BA0930 Pantoprazole 83010-9
BA0931 Paroxetine 83010-9
BA1631 Perphenazine 83010-9
BA0932 Phenytoin 83010-9
BA1632 Pimozide 83010-9
BA0933 Pravastatin 83010-9
BA1633 Propafenone 83010-9
BA1634 Risperidone 83010-9
BA0934 Rosuvastatin 83010-9
BA0935 Sertraline 83010-9
BA0936 Simvastatin 83010-9
BA0937 Sirolimus 83010-9
BA0938 Tacrolimus 83010-9
BA0939 Tamoxifen 83010-9
BA0940 Tamsulosin 83010-9
BA1635 Tetrabenazine 83010-9
BA1636 Thioridazine 83010-9
BA0941 Tramadol 83010-9
BA0942 Trimipramine 83010-9
BA0943 Tropisetron 83010-9
BA0944 Venlafaxine 83010-9
BA0945 Voriconazole 83010-9
BA0946 Warfarin 83010-9
BA0947 Other Medications 30964-1
BA0261 CYP1A2 Genotype 72884-0
BA0262 CYP1A2 Phenotype In Process
BA0258 CYP2C19 Genotype 57132-3
BA0259 CYP2C19 Phenotype 79714-2
BA0264 CYP2C9 Genotype 46724-1
BA0265 CYP2C9 Phenotype 79716-7
BA0255 CYP2D6 Genotype 40425-1
BA0256 CYP2D6 Phenotype 79715-9
BA0252 CYP3A4 Genotype 81139-8
BA0253 CYP3A4 Phenotype 53040-2
BA0249 CYP3A5 Genotype 81140-6
BA0250 CYP3A5 Phenotype 79717-5
BA0246 SLCO1B1 Genotype In Process
BA0247 SLCO1B1 Phenotype 79722-5
BA0228 WARF CYP2C9 Genotype 46724-1
BA0229 WARF VKORC1 Genotype 72512-7
BA0150 Additional VKORC1 Variants 82939-0
BA0230 CYP4F2 *3 Genotype In Process
BA0231 rs12777823 Genotype In Process
BA0151 Interpretation 69047-9
BA0267 Additional Information 48767-8
BA0268 Method 49549-9
BA0269 Disclaimer 62364-5
BA0270 Reviewed by 18771-6