Full-length protein mutation analysis (including deletions, duplications, and point mutations) for a panel of blood-derived proteins

What This Test Measures

The test detects changes in the DNA sequence of several blood proteins, including deletions, duplications, and single nucleotide mutations. These variations can impact protein function and may be linked to inherited disorders or conditions like metabolic diseases, blood disorders, or other systemic issues. The analysis includes a broad panel of proteins, ensuring comprehensive coverage of potential genetic influences on your health.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of genetic blood disorders, symptoms suggestive of a metabolic or protein-related condition, or if you’re at higher risk due to ethnicity or other factors. It’s also used in prenatal testing or genetic counseling to assess inherited risks.

Common Conditions Linked to These Mutations

Mutations in the proteins analyzed may relate to conditions such as lysosomal storage disorders, hemoglobinopathies (e.g., sickle cell disease), or other inherited metabolic or structural blood disorders. Some mutations could also influence enzyme activity or protein stability, potentially affecting how your body processes nutrients or maintains homeostasis.

Sample Collection and Preparation

This test requires a blood sample, typically drawn from a vein in your arm. The sample is processed to isolate DNA for genetic analysis. You may be asked to fast or avoid certain medications before the test, depending on your provider’s instructions.