Amyloid Related Disorders (NGS Panel and Copy Number Analysis)

Whole blood, oral swab, extracted DNA (from blood or oral swab only)

Whole blood: 4 ml
Oral swab: 3 swabs
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST) 

Whole blood: 2 ml
Oral swab: 1 swab
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: Lavender-top (EDTA) 
Oral swab: OCD-100 DNA Genotek
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: standard phlebotomy. 
Oral swab: follow kit instructions
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze. 

• Room temperature: Whole blood: 14 days; Swab: 60 days
• Refrigerated: Whole blood: 30 days; Swab: 60 days
• Frozen: Do not freeze

Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container

Amyloid Disorders are a clinically and genetically heterogeneous group of autosomal dominant diseases characterized by the deposit of insoluble protein fibrils in the extracellular matrix. Hereditary amyloidoses are late onset syndromes caused by pathogenic variants in genes encoding transthyretin, fibrinogen A alpha-chain, lysozyme, apolipoprotein A-1, gelsolin, and cystatin C. Transthyretin amyloidosis, with pathogenic variants of the transthyretin gene (TTR), is the most common. Familial transthyretin (TTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. Age of onset is later in life, typically around age 50. In addition to hereditary amyloidosis, two other forms of systemic amyloidosis exist. Immunoglobulin (AL) amyloidosis is caused by the accumulation of monoclonal immunoglobulin (Ig) light chains as amyloid fibrils. Reactive (AA) amyloidosis is associated with chronic inflammatory diseases (e.g., rheumatoid arthritis; Familial Mediterranean Fever), and fibrils are derived from the circulating acute-phase reactant serum amyloid A protein.

This assay will not consistently detect mosaicism or rule out the presence of large chromosomal aberrations, including rearrangements and inversions that do not change copy number of genomic regions. This NGS assay does not detect repeat expansions. False positive or false negative results may occur for reasons that include insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, homologous regions, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism/heteroplasmy, mislabeled samples, or erroneous representation of family relationships. For panels with mitochondrial DNA assessment, low levels of heteroplasmy may not be reliably detected. Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting, and by the quality and quantity of clinical information provided with the sample. The interpretation of the clinical significance of variants may change.

This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.

Next-Generation Sequencing

Next-generation sequencing to identify genetic variants, including single nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs). 

SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing