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Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish)

Test Code

16069X

CPT Code(s)

81250

Preferred Specimen(s)

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.

Minimum Volume

3 mL

Alternative Specimen(s)

Whole blood collected in: EDTA (royal blue-top) tube, sodium heparin (green-top) tube, ACD solution A or B (yellow-top) tube • Amniotic fluid

Transport Container

EDTA (lavender-top) tube

Transport Temperature

Room temperature

Reject Criteria

Received frozen

Methodology

Allele-Specific Primer Extension • Fluorescent Detection Using Color Coded Microspheres • Polymerase Chain Reaction (PCR)

This test was developed and its performance characteristics have been determined by Quest Diagnostics. Performance characteristics refer to the analytical performance of the test.

Reference Range(s)

See Laboratory Report

Clinical Significance

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.

LOINC®' Code(s)

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
Code
Result NameLOINC CodeComponent Name
31605GLYCOGEN STORAGE DISEASE21680-4G6PD 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.