Sickle Cell is a multisystem disease associated with episodes of acute illness and progressive organ damage. Hemoglobin polymerization, leading to erythrocyte rigidity and Vaso occlusion, is central to the pathophysiology of the disease, but the importance of chronic anemia, hemolysis, and vasculopathy has been established.

5 business days

Polymerase chain reaction (PCR)

EDTA Blood, DNA

Apolipoprotein B100 (APOB100) is one of the B forms of apolipoprotein and it forms the basic protein component of lipoproteins with low and very low density (LDL, VLDL). Thus it plays a significant role during lipid and cholesterol transport. It is synthesized in the liver and distributed by the blood stream to the cells on whose surface it works as a ligand for LDL receptors mediating cholesterol transport to the cells.
The most common APOB gene mutation is an R3500Q mutation, which leads to the exchange of amino acid arginine (Arg) for glutamine (Gln) in position 3527.

5 business days

Polymerase chain reaction (PCR)

EDTA Blood, DNA

Supports a clinical diagnosis of Alzheimer disease (AD) in symptomatic individuals. Use for AD risk assessment only. Genetic counseling and informed consent are strongly recommended prior to ordering and post test to discuss results.

5 business days

Polymerase chain reaction (PCR)

EDTA Blood, DNA

Hereditary hemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and deposition in the liver, pancreas, heart, joints, and pituitary gland. Without treatment, death may occur from cirrhosis, primary liver cancer, diabetes, or cardiomyopathy.

5 business days

Polymerase chain reaction (PCR)

EDTA Blood, DNA

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. Celiac disease has been found to be genetically determined by possession of specific HLA-DQ alleles.

HLA-DQA1 and HLA-DQB1 alleles.

5 business days

Polymerase chain reaction (PCR)

EDTA Blood, DNA

Factor XIII (FXIII) cross-links fibrin upon activation by thrombin. Activation involves cleavage at residue 37 by thrombin, releasing an activation peptide. A common polymorphism (valine to leucine variant at residue 34, V34L), located in the activation peptide, has been associated with increased activation rates and paradoxically a protective effect in cardiovascular disease.

F13A1 c.103G>T; p.Val34Leu.

5 business days

Polymerase chain reaction (PCR)

EDTA Blood, DNA

(MTHFR) C677T polymorphism is associated with various diseases (vascular, cancers, neurology, diabetes, psoriasis, etc) with the epidemiology of the polymorphism of the C677T that varies dependent on the geography and ethnicity.

c.665C>T (p. Ala222Val) (legacy name: C677T)

5 business days

Polymerase chain reaction (PCR)

EDTA Blood, DNA

The methylenetetrahydrofolate reductase (MTHFR) gene contains the DNA code to produce the MTHFR enzyme. This test detects two of the most common mutations. When there are mutations or variations in the MTHFR gene, it can lead to serious genetic disorders such as homocystinuria, anencephaly, spina bifida, and others. The MTHFR enzyme is critical for metabolizing one form of B vitamin, folate, into another. It is also part of the process that converts homocysteine into methionine, an important building block for many proteins.

c.1286A>C (p. Glu429Ala) (legacy name: A1298C)

5 business days

Polymerase chain reaction (PCR)

EDTA Blood, DNA

Venous thromboembolism (VTE) is a multifactorial condition caused by a combination of genetic and environmental factors. The Factor V Leiden (FVL) variant is the most common cause of inherited VTEs, accounting for over 90 percent of activated protein C (APC) resistance. Because the FVL variant eliminates the APC cleavage site, factor V is inactivated slower, thus persisting longer in blood circulation, leading to more thrombin production. Other genetic risk factors for VTE include, male sex and variants in antithrombin, protein C, protein S, or factor XIII.

c.1601G>A (p.Arg534Gln). Legacy nomenclature: R506Q (1691G>A).

5 business days

Polymerase chain reaction (PCR)

EDTA Blood, DNA

Prothrombin 20210 Mutation, also called Factor II Mutation is a genetic condition that causes an increase in the likelihood of your blood forming dangerous blood clots. All individuals make the prothrombin (also called factor two) protein that helps blood clot. However, there are certain individuals who have a DNA mutation in the gene used to make prothrombin (also called prothrombin G20210A or the factor II (two) mutation). They are said to have an inherited thrombophilia (clotting disorder) called prothrombin G20210A. When this occurs, they make too much of the prothrombin protein.

c.*97G>A (G20210A)

5-7 business days

Polymerase chain reaction (PCR)

EDTA Blood, DNA