Glycogen storage disease 1a

Alphabetical Test listing

Glycogen storage disease 1a-13562

Glycogen storage disease 1a
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

EDTA whole blood
7 mL
3 mL

Lavender (EDTA), 10mL

ACD whole blood
Amniotic fluid
Chorionic villus sample/CVS (submission of maternal blood is required for fetal testing)

Yellow ACD (A or B)


Amniotic fluid or Chorionic villus sample (CVS) - Sterile vial/container

ACD whole blood - 7 mL (minimum 3 mL)
Amniotic fluid - 10mL (minimum 5mL)
Chorionic villus sample /CVS - 20 mg (minimum 10 mg)

Whole blood - Yellow ACD (A or B)

Amniotic fluid or Chorionic villus sample (CVS) - Sterile vial/container


Molecular Medicare billing request

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  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis (QNS)
  •  Improper container
LabCorp RTP (511290): R-LC
2x per week, or as needed
7 - 15 days
If cultured cells are needed, an additional 7 - 12 days may be required

Polymerase chain reaction (PCR) and primer extension


An interpretive report will be provided


Some infants who are untreated develop severe hypoglycemia ( low blood sugar). 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 intoadulthood. The disease has elevated prevalence among Ashkenazi Jews, with a carrier rate of 1 in 71, although it is seen in all ethnic goups. 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. 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 that are Ashkenazi Jewish, and approximately 60% of GSD1a carriers that are non-Ashkenazi Jewish Caucasian. Biochemical analysis ofliver biopsy specimens can be performed for diagnostic purposes but does not determine carrier status. 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.

This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
Result 21680-4