Carrier screening or diagnostic testing for glycogen storage disease type 1A for individuals of Ashkenazi Jewish descent.
Polymerase Chain Reaction/Fluorescence Monitoring
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month
Background Information for Glycogen Storage Disease, Type 1A (G6PC), 9 Variants:
Characteristics: Infants typically present at 3 to 4 months of age with hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, hypertriglyceridemia and/or hypoglycemic seizures. Other characteristics include growth delay leading to short stature, osteoporosis, delayed puberty, renal disease, and hepatic adenomas with potential for malignancy. With treatment, affected individuals often live into adulthood.
Incidence: 1 in 20,000 in Ashkenazi Jewish individuals.
Inheritance: Autosomal recessive.
Cause: G6PC pathogenic variants.
Variants Tested: p.Q27Rfs (c.79delC), Y128Tfs (c.379_380dupTA), p.R83H (c.248G>A), p.R83C (c.247C>T), p.G188R (c.562G>C), p.Q242X (c.724C>T), p.Q347X (c.1039C>T), p.G270V (c.809G>T), p.F327del (c.979_981delTTC).
Clinical Sensitivity: 99 percent in Ashkenazi Jewish individuals; varies by ethnicity in non-Ashkenazi Jewish individuals.
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Variants other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.
Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2013741||Glycogen Storage Disease, Specimen|
|2013742||Glycogen Storage Disease, Allele 1|
|2013743||Glycogen Storage Disease, Allele 2|
|2013744||Glycogen Storage Disease, Interp|
- Gierke disease