Genetic Testing

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Pharmacogenomic (PGx) Testing

Pharmacogenomic testing , also known as PGx testing, is the analysis of a patient’s genes in regards to how they process and respond to prescriptions and over-the-counter medications. This test can be used to give insight into how genetic factors contribute to current and potential medications for each individual based on a patient’s genetic drug metabolism. Through genotyping 36 genes, this test will be an important aid for dosing, prescribing, changing medications, and understanding drug interactions for each patient.

There are many benefits for PGx testing:

Tailor medications and dosages based on one’s genetic makeup to maximize the intended use.
Reduce the chance of an adverse drug reactions, side effects, and/or dependency.
Improve the efficacy of mental health medications.
Better support pain relief post-surgery and/or chronically.

Test Code: 25D	PGX Comprehensive Panel
Performing Lab:	SMA Specialty Medical Lab
TEST INCLUDES	12Q15, ABCB1, ABCG2, ANKK1, APOe, COMT, CYP1A2, CYP2B6, CYP2C19, CYP2C9, CYP2D6, CYP3A4, CYP3A5, CYP4F2, DPYD, DRD2, F2, F5, FKBP5, GRIK4, HTR2A, HTR2C, ITGB3, LPA, MC4R, MTHFR, NUDT15, OPRD1, OPRK1, OPRM1, SLCO1B1, TPMT, UGT1A1, UGT2B15, and VKORC1 See Requistion for Genes Present in Individual Panel; Genes Tested Vary
Reference Ranges:	n/a
Reference Ranges:
Volume	For Whole Blood samples, a minimum volume of 2 mL whole blood collected in K2EDTA tubes is required.
Specimen	Whole Blood or Buccal Swab
container	Lavender top K2 EDTA or Buccal swab specimens collected with 4N6FLOQ swabs manufactured by Copan
Collection	For Buccal Swab collection; Open the peel pouch. While holding the swab by the handle remove it from the pouch. Holding the swab by the handle, insert the swab inside the mouth over the tongue and wet the swab with saliva. Move the swab to the side of the mouth and firmly roll the swab 10 times against the cheek, close to the gingival wall. Use the index and medium finger to press on the cheek while collecting the swab. Repeat step #3 by transferring the swab on the other cheek. Reinsert the swab into the peelpouch after sample collection. Please collect at least two swabs per patient to minimize DNA extraction failure rates. For Lavender top collection; see package insert.
Transport Temperature:	For Lavender tops, up to 7 days at room temp and 30 days at 2˚C to 8˚C; For Buccal Swabs, 30 days at Room Temperature.
Specimen Stability:	For Lavender tops, up to 7 days at room temp and 30 days at 2˚C to 8˚C; For Buccal Swabs, 30 days at Room Temperature.
Specimen Stability:
Causes for Rejection	Specimen improperly labeled or unlabeled, Outside of Stability window; Inappropriate collection container, Insufficient volume, Transportation requirements not met, Specimen leakage from tube, DNA extraction is repeatedly unsuccessful (up to laboratory discretion), Clotted or hemolyzed specimen (Blood only). For Buccal Swabs only; Sample is unnaturally colored, Sample is very viscous and/or contains foreign materials (e.g., food particles).
Methodology:	Real Time PCR/ Genotyping
Setup Days:	Monday-Friday
Setup Times:	Day Shift
Turnaround:	14 Calender Days
CPT Code(s):	81479; 81225; 81226; 81227, 81231, 81479, 81232, 81328, 81306, 81335, 81350; and 81355 Varies bases on Gene Target
CPT Code(s):	(The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.)
use	These assays will identify alleles/genotypes in human samples obtained from provided biological materials, which will be used to determine drug metabolism and specific disease risk factors.

Genetic Testing

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.

ComprehensiveDx Clear™

ComprehensiveDx Clear^TM is a comprehensive panel for hereditary breast, ovarian, uterine, colorectal, pancreatic, prostate and melanoma cancers.

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BreastDx Clear™

BreastDx Clear^TM is a multi-gene test that analyzes 16 breast cancer susceptibility genes.

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ColoDx Clear™

ColoDx Clear^TM is a multi-gene test focused on hereditary colon cancer syndromes.

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ProstateDx Clear™

ProstateDx Clear^TM is a multi-gene test that analyzes 16 prostate cancer susceptibility genes.

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ComprehensiveDx Clear™

ComprehensiveDx Clear™
Test Code:	1248
Test Description	ComprehensiveDx Clear is a comprehensive panel for hereditary breast, ovarian, uterine, colorectal, pancreatic, prostate and melanoma cancers.
Genes Tested	GENE	ASSOCIATED CANCER(S)	SYNDROME
	APC	Colorectal, pancreatic and other	Familial Adenomatous Polyposis syndrome, Gardner syndrome, and Turcot syndrome
	ATM	Breast, pancreatic	Ataxia-telangiectasia (if both copies of the gene are mutated)
	BAP1	Renal, melanoma, mesothelioma	Familial Melanoma Cancer Syndrome
	BARD1	Breast, ovarian
	BMPR1A	Colorectal, gastric, pancreatic	Juvenile Polyposis syndrome
	BRCA1	Breast, ovarian, pancreatic, prostate, male breast	Hereditary Breast and Ovarian Cancer syndrome
	BRCA2	Breast, ovarian, pancreatic, prostate, male breast, melanoma	Hereditary Breast and Ovarian Cancer syndrome;
	BRCA2		Fanconi anemia (if both copies of the gene are mutated)
	BRIP1	Ovarian, breast	Fanconi anemia (if both copies of the gene are mutated)
	CDH1	Breast, gastric, colorectal	Hereditary Diffuse Gastric Cancer
	CDK4	Melanoma, pancreatic	Familial Melanoma Cancer Syndrome
	CDKN2A	Melanoma, pancreatic	Familial Melanoma Cancer Syndrome
	CHEK2	Breast, colorectal
	DICER1	Lung, kidney, thyroid, ovarian
	EPCAM	Colorectal, gastric, endometrial, ovarian	Lynch (Hereditary non-polyposis colon cancer) syndrome
	FANCC	Breast	Fanconi anemia (if both copies of the gene are mutated)
	MRE11A	Breast, ovarian	Ataxia-telangiectasia-like Syndrome (if both copies of the gene are mutated)
	MSH2	Colorectal, gastric, endometrial, ovarian	Lynch (Hereditary non-polyposis colon cancer) syndrome
	MSH6	Colorectal, endometrial	Lynch (Hereditary non-polyposis colon cancer) syndrome
	MUTYH	Colorectal	MUTYH-associated Polyposis syndrome
	NBN	Breast, melanoma, prostate	Nijmegen breakage syndrome (if both copies of the gene are mutated)
	PALB2	Breast, ovarian, pancreatic, male breast	Fanconi anemia (if both copies of the gene are mutated)
	PMS2	Colorectal, endometrial, gastric, ovarian	Lynch (Hereditary non-polyposis colon cancer) syndrome
	POLD1	Colorectal, endometrial	Familial Adenomatous Polyposis syndrome
	POLE	Colorectal, gastrointestinal	Familial Adenomatous Polyposis syndrome
	PTEN	Breast, uterine, colorectal, thyroid, kidney, melanoma	Cowden Syndrome / PTEN Hamartoma Tumor Syndrome
	RAD50	Ovarian
	RAD51C	Breast, ovarian	Fanconi anemia (if both copies of the gene are mutated)
	RAD51D	Breast, ovarian
	SDHA	Gastrointestinal, other	Paragangliomas 5
	SDHB	Gastrointestinal, renal, other	Paraganglioma and gastric stromal sarcoma
	SDHC	Gastrointestinal, renal, other	Paraganglioma and gastric stromal sarcoma
	SDHD	Gastrointestinal, renal, other	Cowden Syndrome 3; Paraganglioma and gastric stromal sarcoma
	SMAD4	Colorectal, gastric	Juvenile Polyposis syndrome
	STK11	Colorectal, endometrial, gastric, ovarian, breast, pancreatic	Peutz-Jeghers syndrome
	TP53	Colorectal, breast, pancreatic, sarcomas, gastrointestinal, adrenocortical, leukemia	Li-Fraumeni syndrome
Specimen Requirements	Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Turnaround Time (TAT)	2-3 weeks

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BreastDx Clear™

BreastDx Clear™
Test Code:	1250
Test Description	BreastDx Clear is a multi-gene test that analyzes 16 breast cancer susceptibility genes. Although all women have some risk of developing breast and/or ovarian cancer at some point in their lives, having a mutation in one of the breast cancer susceptibility genes increases this risk. Men who have a mutation in one of the breast cancer susceptibility genes have an increased risk of breast, prostate, pancreatic, gastric and other cancer types.
Genes Tested	GENE	ASSOCIATED CANCER(S)	SYNDROME
	ATM	Breast, pancreatic	Ataxia-telangiectasia (if both copies of the gene are mutated)
	BARD1	Breast, ovarian
	BRCA1	Breast, ovarian, pancreatic, prostate, male breast	Hereditary Breast and Ovarian Cancer syndrome
	BRCA2	Breast, ovarian, pancreatic, prostate, male breast, melanoma	Hereditary Breast and Ovarian Cancer syndrome;
			Fanconi anemia (if both copies of the gene are mutated)
	BRIP1	Ovarian, breast	Fanconi anemia (if both copies of the gene are mutated)
	CDH1	Breast, gastric, colorectal	Hereditary Diffuse Gastric Cancer
	CHEK2	Breast, colorectal
	FANCC	Breast	Fanconi anemia (if both copies of the gene are mutated)
	MRE11A	Ovarian, breast	Ataxia-telangiectasia-like Syndrome (if both copies of the gene are mutated)
	NBN	Breast, melanoma, prostate	Nijmegen breakage syndrome (if both copies of the gene are mutated)
	PALB2	Breast, ovarian, pancreatic, male breast	Fanconi anemia (if both copies of the gene are mutated)
	PTEN	Breast, uterine, colorectal, thyroid, kidney	Cowden Syndrome / PTEN Hamartoma Tumor Syndrome
	RAD51C	Breast, ovarian	Fanconi anemia (if both copies of the gene are mutated)
	RAD51D	Breast, ovarian
	STK11	Breast, ovarian, colorectal, gastric, pancreatic	Peutz-Jeghers Syndrome
	TP53	Breast, brain, sarcomas, gastrointestinal, adrenocortical, leukemia	Li-Fraumeni Syndrome
Specimen Requirements	Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Turnaround Time (TAT)	2-3 weeks

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ColoDx Clear™

ColoDx Clear™
Test Code:	1251
Test Description	Colorectal cancer is the fourth most common type of cancer diagnosed in the United States and the second leading cause of cancer-related deaths in the country. ColoDx Clear is a multi-gene test focused on hereditary colon cancer syndromes. Pathogenic variants (mutations) in high-risk colorectal cancer genes are associated with several hereditary cancer syndromes and increase the risk of cancer in many organs.
Genes Tested	GENE	ASSOCIATED CANCER(S)	SYNDROME
	APC	Colorectal, pancreatic and other	Familial Adenomatous Polyposis syndrome, Gardner syndrome, and Turcot syndrome
	BMPR1A	Colorectal, gastric	Juvenile Polyposis syndrome
	EPCAM	Colorectal, gastric, endometrial, ovarian	Lynch (Hereditary non-polyposis colon cancer) syndrome
	MLH1	Colorectal, gastric, endometrial, ovarian	Lynch (Hereditary non-polyposis colon cancer) syndrome
	MSH2	Colorectal, gastric, endometrial, ovarian	Lynch (Hereditary non-polyposis colon cancer) syndrome
	MSH6	Colorectal, endometrial	Lynch (Hereditary non-polyposis colon cancer) syndrome
	MUTYH	Colorectal	MUTYH-associated Polyposis syndrome
	PMS2	Colorectal, endometrial, gastric, ovarian	Lynch (Hereditary non-polyposis colon cancer) syndrome
	POLD1	Colorectal, endometrial	Familial Adenomatous Polyposis syndrome
	POLE	Colorectal, gastrointestinal	Familial Adenomatous Polyposis syndrome
	PTEN	Colorectal, endometrial, breast, melanoma	Cowden syndrome
	SMAD4	Colorectal, gastric	Juvenile Polyposis syndrome
	STK11	Colorectal, endometrial, gastric, ovarian, breast, pancreatic	Peutz-Jeghers syndrome
	TP53	Colorectal, breast, pancreatic and other	Li-Fraumeni syndrome
Specimen Requirements	Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Turnaround Time (TAT)	2-3 weeks

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