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Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish)
4 mL whole blood collected in an EDTA (lavender-top) tube
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze. For prenatal diagnosis with a fetal specimen: 1) parents must be documented carriers of one of the mutations tested; 2) maternal blood or DNA must be available; 3) contact the laboratory genetic counselor before submission.
Amniotic fluid (acceptable): Normal collection procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Amniocyte culture (acceptable): Sterile T25 flask, filled with culture medium. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Dissected chorionic villus (CVS) biopsy (acceptable): 10-20 mg dissected chorionic villi collected in sterile tube filled with sterile culture media. Specimen stability is crucial. Store and ship room temperature immediately. Do not refrigerate or freeze.
Forward cells to laboratory immediately.
Whole blood collected in: EDTA (royal blue-top) tube, ACD solution A or B (yellow-top) tube, sodium heparin (green-top) tube or lithium heparin (green-top) tube • Amniotic fluid • Cultured amniocytes • Extracted DNA • Bone marrow • Chorionic Villus sample
EDTA (lavender-top) tube
Allele-Specific Primer Extension • Fluorescent Detection Using Color Coded Microspheres • Polymerase Chain Reaction (PCR)
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
See Laboratory Report
1) To identify disease causing mutations in individuals affected with Glycogen Storage Disease Type 1a.
2) To identify carriers in high risk ethnic groups or people with positive family history.
3) Prenatal diagnosis of Glycogen Storage Disease Type 1a for at risk couples.
The Result and LOINC information listed below should not be used for electronic interface maintenance with Quest Diagnostics. Please contact the Quest Diagnostics Connectivity Help Desk for more information at 800-697-9302.NOTE: The codes listed in the table below are not orderable Test Codes.
|Result Name||LOINC Code||Component Name|
|31605||GLYCOGEN STORAGE DISEASE||21680-4||G6PD gene mutation analysis|
Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.
The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
LOINC assignment is based on a combination of test attributes, including the method used by the performing laboratory. For tests not performed by Quest Diagnostics, codes are assigned by the performing laboratory.
* The tests listed by specialist are a select group of tests offered. For a complete list of Quest Diagnostics tests, please refer to our Directory of Services.