Molecular Diagnostic Test Menu


Factor V Leiden

Factor II

Hemochromatosis (HFE)

MTHFR

CHEMO DME PANEL

CORE DME PANEL

GENE + DRUG LIST

WARFARIN PANEL

Medical Genetics

Use: Detects the presence of an APoE mutation, which is associated with an increased risk for hyperlipoproteinemia type III. The involves an increase of cholesterol, triglycerides, and beta-very low-density lipoproteins (beta-VLDLs) in the blood stream, which can lead to atherosclerosis.
Methodology: PCR Genotyping
Test Code: G049
CPT Code: 81401
Turn-Around Time: 7 business days
Specimen: Buccal Swab (preferred); whole blood (alternate)
Container: Ora-Collect (blue-top) lavender-top (EDTA)-blood
Genetic Consent Form: Required - Click Here To Download Form
Preauthorization: Recommended
Causes for Rejection: Causes for Rejection: Inappropriate sample type or storage condition. Swabs should be kept at room temperature. Blood should be refrigerated.
Use: Detects the presence of the Factor V Leiden mutation, which is associated with an increased risk of thrombophilia and deep vein thrombosis.
Methodology: PCR Genotyping
Test Code: GP12
CPT Code: 81241
Turn-Around Time: 5 business days
Specimen: Buccal swab (preferred); whole blood (alternate)
Container: Ora-Collect (blue-top) - swab; lavender-top (EDTA) - blood
Genetic Consent Form: Required - Click Here To Download Form
Preauthorization: Recommended
Causes for Rejection: Inappropriate sample type or storage condition. Swabs should be kept at room temperature. Blood should be refrigerated.
Use: Detects the presence of the Factor II G20210A mutation, which is associated with an increased risk of thrombophilia and deep vein thrombosis.
Methodology: PCR Genotyping
Test Code: GP11
CPT Code: 81240
Turnaround Time: 5 business days
Specimen Type: Buccal swab (preferred); whole blood (alternate)
Container: Ora-Collect (blue-top) - swab; lavender-top (EDTA) - blood
Causes for Rejection: Inappropriate sample type or storage condition. Swabs should be kept at room temperature. Blood should be refrigerated.
Genetic Consent Form: Required - Click Here To Download Form
Preauthorization: Recommended
Use: Detects the presence of the C2892Y, H63D, and S65C mutations in the HFE gene, which are associated with increased iron levels in the blood, potentially leading to iron toxicity and the development of hemochromatosis.

Methodology: PCR Genotyping
Test Code: GP14
CPT Code: 81256
Turnaround Time: 5 business days
Specimen Type: Buccal swab (preferred); whole blood (alternate)
Container: Ora-Collect (blue-top) - swab; lavender-top (EDTA) - blood
Causes for Rejection: Inappropriate sample type or storage condition. Swabs should be kept at room temperature. Blood should be refrigerated.
Genetic Consent Form: Required - Click Here To Download Form
Preauthorization: Recommended
Use: Detects the presence of the C677T and A1298C mutations in the MTHFR gene, which are associated with impaired folate metabolism and increased blood homocysteine levels.
Methodology: PCR Genotyping
Test Code: GP06
CPT Code: 81291
Turnaround Time: 5 business days
Specimen Type: Buccal swab (preferred); whole blood (alternate)
Container: Ora-Collect (blue-top) - swab; lavender-top (EDTA) - blood
Causes for Rejection: Inappropriate sample type or storage condition. Swabs should be kept at room temperature. Blood should be refrigerated.
Genetic Consent Form: Required - Click Here To Download Form
Preauthorization: Recommended


Molecular Oncology/Oncogenetics

Use: Detects the presence of the Jak2 V617F mutation, which is associated with myeloproliferative disorders, and quantifies the amount of mutant versus normal alleles in the sample. Appropriate for diagnosis, monitoring of treatment, and minimal residual disease testing.

Methodology: Quantitative real-time PCR
Test Code: GP16
CPT Code: 81270
Turnaround Time: < 10 Days
Specimen Type: Whole Blood
Container: Lavender-top (EDTA)
Causes for Rejection: Frozen/hemolyzed blood; inappropriate sample type
Genetic Consent Form: Required - Click Here To Download Form
Preauthorization: Recommended
Use: For patients that test negative for Jak2 V617F, but Jak2 mutations are still suspected, this test screens the exon 12 sequence for mutations, including, but not limited to the four most common exon 12 variants.

Methodology: PCR followed by high-resolution melting
Test Code: GP17
CPT Code: 81403
Turnaround Time: < 10 Days
Specimen Type: Whole blood (if ordered with Jak2 V617F, only one sample is needed)
Container: Lavender-top (EDTA)
Causes for Rejection: Frozen/hemolyzed blood; inappropriate sample type
Genetic Consent Form: Required - Click Here To Download Form
Preauthorization: Recommended
Use: Detects and quantifies the presence of the BCR-abl fusion transcript (aka t(9;22)/Philadelphia chromosome) associated with chronic myelogenous leukemia (CML) and acute lymphoblastic leukemia (ALL). Appropriate for diagnosis, monitoring of treatment, and minimal residual disease testing.

Methodology: Quantitative RT-PCR, normalized to International Scale (IS) values
Test Code: GP15
CPT Code: 81206
Turnaround Time: < 10 Days
Specimen Type: Whole blood
Container: Lavender-top (EDTA)
Causes for Rejection: Frozen/hemolyzed blood; inappropriate sample type
Genetic Consent Form: Required - Click Here To Download Form
Preauthorization: Recommended


Pharmacogenetics

Use: Detects common genetic variants in three genes involved in metabolism of common theraputic drugs. Results ensure more effective treatment and fewer unnecessary side effects for individuals undergoing chemotherapy.

Genes Tested: DPYD, TPMT, UGT1A1
Methodology: PCR genotyping; deletion/duplication analysis
Test Code: GP02
CPT Code(s): 81350, 81400, 81401
Turnaround Time: < 10 Days
Specimen Type: Buccal swab (preferred); whole blood (alternate)
Container: Ora-Collect (blue-top) - swab; lavender-top (EDTA) - blood
Causes for Rejection: Inappropriate sample type or storage condition. Swabs should be kept at room temperature. Blood should be refrigerated.
Genetic Consent Form: Required - Click Here To Download Form
Preauthorization: Recommended
Use: Detects common genetic variants in nine key drug metabolism genes. Helps physicians predict the patient’s response to 100+ commonly prescribed drugs. Specific recommendations for drug choice and dosage are provided.

Genes Tested: CYP2D6, CYP2C9, CYP2C19, CYP2B6, CYP3A4, CYP3A5, OPRM1, SLCO1B1, COMT
Methodology: PCR genotyping; deletion/duplication analysis
Test Code: GP07
CPT Code(s): 81225, 81226, 81227, 81400, 81401, 81479
Turnaround Time: < 10 Days
Specimen Type: Buccal swab (preferred); whole blood (alternate)
Container: Ora-Collect (blue-top) - swab; lavender-top (EDTA) - blood
Causes for Rejection: Inappropriate sample type or storage condition. Swabs should be kept at room temperature. Blood should be refrigerated.
Genetic Consent Form: Required - Click Here To Download Form
Preauthorization: Recommended
Use: Detects common genetic variants in five genes involved in warfarin metabolism and response. Genotype information can be used to predict an exact recommended dosage for the patient, ensuring sufficient response and minimizing adverse reactions.

Genes Tested: VKORC1, CYP2C9, GGCX, CYP4F2, CACNA1C
Methodology: PCR Genotyping
Test Code: GP03
CPT Code(s): 81227, 81355
Turnaround Time: < 10 Days
Specimen Type: Buccal swab (preferred); whole blood (alternate)
Container: Ora-Collect (blue-top) - swab; lavender-top (EDTA) - blood
Causes for Rejection: Inappropriate sample type or storage condition. Swabs should be kept at room temperature. Blood should be refrigerated.
Genetic Consent Form: Required - Click Here To Download Form
Preauthorization: Recommended


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