Biomarkers · Chemical
Gaucher Disease DNA Mutation Analysis
- Also listed as
- na, serum sodium, Gaucher Disease, DNA Mutation Analysis, plasma sodium
- LOINC codes
- 41104-1
- Tests that measure Gaucher Disease DNA Mutation Analysis
- Quest Diagnostics 1
Tests
Check the catalog code, specimen, method and preparation for every test that measures Gaucher Disease DNA Mutation Analysis. Select up to five tests to compare them side by side.
Quest Diagnostics 1 test
Single-analyte tests
Gaucher Disease, DNA Mutation Analysis 90907
Blood · Fasting not stated · Turnaround Set up: Tues, Thurs, Sat
Quest Diagnostics catalog pageMethod 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 sample arrives. 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
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Quest Diagnostics test catalog
1 test: codes, specimens, methods, preparation and reference intervals.
LOINC 41104-1
Regenstrief Institute codes that identify the same result across labs.
Search ClinicalTrials.gov for Gaucher Disease DNA Mutation Analysis
Registered studies that measure Gaucher Disease DNA Mutation Analysis, on the U.S. National Library of Medicine registry.
Verify these ranges and sources
We compile this page from named laboratory catalogs, guidelines and studies. Labs calculate reference intervals from the people they test, for one assay method and one population group, so an interval describes that population rather than an optimal target.
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