Biomarkers · Chemical
Achondroplasia Mutation Analysis
- LOINC codes
- 21676-2
- Tests that measure Achondroplasia Mutation Analysis
- Quest Diagnostics 1
Tests
Check the catalog code, specimen, method and preparation for every test that measures Achondroplasia Mutation Analysis. Select up to five tests to compare them side by side.
Quest Diagnostics 1 test
Single-analyte tests
Achondroplasia Mutation Analysis 16061
Blood · Fasting not stated · Turnaround Set up: As needed
Quest Diagnostics catalog pageMethod and collection
- Method
- Polymerase Chain Reaction (PCR) • Single Nucleotide Primer Extension
- Collection
- Do not hold specimen; forward to laboratory when specimen arrives. Whole blood: Specimen stability is crucial. Store and ship 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 T-25 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 sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; Forward to laboratory when sample arrives.
- Reference notes
- See Laboratory Report
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Lab catalogs
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Quest Diagnostics
Test catalog: 1 tests, with codes, specimens, methods and reference intervals
Codes and registries
LOINC 21676-2
Regenstrief Institute codes that identify the same result across labs.
Search ClinicalTrials.gov for Achondroplasia Mutation Analysis
Registered studies that measure Achondroplasia 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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