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- Jewish Heritage Test
- von Gierke Disease
Glycogen storage disease type 1a (GSD1a), also called von Gierke disease (OMIM 232200), is a recessive inherited disorder characterized by an enlarged liver and kidneys due to the accumulation of glycogen and fat.
This test only detects the R83C and Q347X mutations.
Polymerase chain reaction (PCR) and primer extension
Some infants who are untreated develop severe hypoglycemia (low blood sugar).1,2 Long-term complications of untreated GSD1a include short stature, osteoporosis, delayed puberty, kidney disease, liver disease, seizures, and mental retardation. This condition is caused by a deficiency of the enzyme D-glucose-6-phosphatase (G6Pase), and can be treated by making dietary changes and maintaining normal levels of glucose to prevent hypoglycemia. Individuals who are treated can be expected to have normal growth and many live into adulthood.1 The disease has elevated prevalence among Ashkenazi Jews, with a carrier rate of 1 in 71, although it is seen in all ethnic groups. Carriers of GSD1a do not exhibit symptoms that would lead one to suspect their carrier status. When both parents are carriers of GSD1a, there is a 25% chance with each pregnancy to have a child with the disease. Prenatal diagnosis is available.1 Molecular genetic testing for GSD1a encompasses two mutations in the gene encoding D-glucose-6-phosphatase (G6Pase, OMIM 611045). Testing for these two mutations identifies 99% of GSD1a carriers who are Ashkenazi Jewish,2,3 and approximately 60% of GSD1a carriers who are non-Ashkenazi Jewish Caucasian.4 Biochemical analysis of liver biopsy specimens can be performed for diagnostic purposes but does not determine carrier status.2 A negative test result decreases the likelihood that a person is a carrier, but cannot completely eliminate the possibility. The presence of a rare mutation cannot be ruled out. DNA test results must be combined with clinical information for the most accurate interpretation.
Whole blood, amniotic fluid, chorionic villus sample (CVS), or LabCorp buccal swab kit (buccal swab collection kit contains instructions for the use of a buccal swab)
7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit
3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs
Maintain specimen at room temperature or refrigerate at 4°C.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; wet buccal swab
|Order Code||Order Code Name||Order Loinc||Result Code||Result Code Name||UofM||Result LOINC|
|511290||Glycogen Storage Disease 1a||511367||Glycogen Storage Disease 1a||21680-4|
|511290||Glycogen Storage Disease 1a||511951||51969-4|