Vitamin C

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 Test Code: 1421 Vitamin C
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 Performing Lab:  SMA Specialty Medical Lab
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 Clinical Significance:  Vitamin C, also referred to as L-Ascorbic acid, is a water-soluble vitamin that is naturally present in some foods and available as a dietary supplement (alone or in multivitamins). Vitamin C is required cofactor for a number of critical compounds biosynthesis. It is required for the function of several enzymes involved in the production of collagen.Impaired collagen production can result in poor wound healing , tooth loss, joint pains, bone and connective tissue pathology,blood vessel fragility. Vitamin C deficiency related reduction in carnitine levels results in fatigue and lethargy. Moreover, Vitamin C is an essential cofactor for the conversion of dopamine to norepinephrine, in the metabolism of tyrosine and folate, and the conversion of cholesterol to bile acids.
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 Reference Ranges:  0.4-2.0 mg/dL
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 Preferred Specimen:  Plasma from green-top tube containing lithium or sodium heparin.
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 Minimum Volume:  0.25 mL
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 Optimum Volume 0.5 mL
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 Specimen Container:  Green-top tube containing lithium or sodium heparinas an anticoagulant
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 Collection Collect blood into green-top tube containing lithium or sodium heparin . Mix immediately by gentle inversion to insure adequate mixing. Separate and transfer to an amber transport tube. Protect from light, refrigerate or freeze.
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 Transport Temperature and Storage :  Protected from light
Frozen (-20°C) or refrigerated
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 Specimen Stability:  Up to 7 days
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 Reject Hemolysis:  Yes, if grossly hemolyzed
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 Reject Lipemia:  Yes, if grossly lipemic
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 Reject Thaw/Other:  Blood collected in any other container than a green-top tube; not protected from light; received past 7 days after collection; shipped without dry ice pack
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 Methodology:  LC-MS/MS
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 Setup Days:  Twice a week
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 Setup Times:  2nd shift
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 Turnaround:  3-5 days
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 CPT Code(s):  82180
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 (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.)
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 INSTRUMENT Agilent

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;
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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ProstateDx Clear™

ProstateDx Clear™
Test Code: 1257
Test Description: The ProstateDx Clear™  Panel examines genes associated with an increased risk for prostate cancer.  This test includes both well-established prostate cancer susceptibility genes, as well as candidate genes with limited evidence of an association with prostate cancer.
Genes Tested: ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6,
NBN, PALB2, PMS2, TP53
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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