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  • Ferritin
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  • Alkaline Phosphatase
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Biomarkers · Chemical

Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish)

LOINC codes
21680-4
Tests that measure Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish)
Quest Diagnostics 1

Tests

Check the catalog code, specimen, method and preparation for every test that measures Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish). Select up to five tests to compare them side by side.

Quest Diagnostics 1 test

Single-analyte tests

  • Glycogen Storage Disease Type Ia Mutation Analysis (Ashkenazi Jewish) 90915

    Blood · Fasting not stated · Turnaround Set up: Tues, Fri

    Method and collection
    Method
    Polymerase Chain Reaction (PCR) • Next Generation Sequencing
    Collection
    Do not hold specimen; forward to laboratory when specimen arrives. Whole blood: Specimen stability is crucial. Store and ship at room temperature immediately. Do not freeze. For fetal testing: 1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission 2) Documentation of parental carrier status must be provided 3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test. Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives. Amniocyte or chorionic villus (CVS) culture: Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive. Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in a sterile tube, filled with sterile culture media. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives. Note: Do not reject. Forward to performing laboratory for evaluation of sample.
    Reference notes
    See Laboratory Report
    Quest Diagnostics catalog page

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