Carbohydrate Metabolism Deficiency (NGS Panel and Copy Number Analysis + mtDNA)

Room Temp whole blood, oral swab, extracted DNA (from blood, oral swab, or muscle only) OR frozen muscle tissue

Whole blood: 4 ml
Oral swab: 3 swabs
Muscle:  75 milligrams
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Whole blood: 2 ml
Oral swab: 1 swab
Muscle:  50 milligrams
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

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

Whole blood: standard phlebotomy. 
Oral swab: follow kit instructions
Muscle:  Snap freeze in liquid nitrogen and maintain at -80°C
Extracted DNA: Contact MNG Genetic Services 844-664-8378 (844-MNGTEST)

Maintain whole blood and oral swab specimens at room temperature or refrigerate at 4°C. Do not freeze.  Muscle specimen: maintain frozen and ship on dry ice.

• Room temperature: Whole blood: 14 days; Swab: 60 days; Muscle:  0 days
• Refrigerated: Whole blood: 30 days; Swab: 60 days; Muscle: 0 days
• Frozen: Muscle: 15 years

Hemolyzed, quantity not sufficient for analysis, improper container, improper storage temperature

Carbohydrate metabolism disorders are a group of metabolic disorders where individuals may not have enough enzymes to break down the carbohydrates, or the enzymes do not work properly. This causes a harmful amount of sugar to build up in the body leading to serious health problems, including fatality. The most common disorders of carbohydrate metabolism are acquired or secondary derangements, such as diabetic ketoacidosis, hyperosmolar coma, and hypoglycemia, and all affect the central nervous system. The inherited disorders of carbohydrate metabolism are rare, and almost all are inherited in an autosomal recessive fashion.

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 to identify single nucleotide variants (SNVs), insertions, deletions, and copy number variants (CNVs).  For the mitochondrial genome, next generation sequencing of long range PCR products. 

SINGLE Blood Genetic Testing, Buccal Swab Genetic Testing