SHOX Gene Sequencing SHOX
Synonyms |
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Allscripts (AEHR) Order Name |
SHOX, DHPLC |
Sunrise Clinical Manager (SCM) Order Name |
SHOX Gene Sequencing |
Clinical Info |
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Specimen Type |
Blood |
Container |
Lavender Top Tube |
Collection Instructions |
Container/Tube: Lavender (EDTA) tube (Also acceptable: Oral Swab or extracted DNA) |
Transport Instructions |
Refrigerated |
Specimen Stability |
5 Days Room Temperature |
Methodology |
Nuclear Gene Single Nucleotide Variant and Small Indel Sequencing Assessment |
Days Performed |
TAT: 28 Days |
Performing Laboratory |
Labcorp- Medical Neurogenics Lab |
CPT |
81405 |
PDM |
5950967 |
Result InterpretationNo mutation detected
The assay will not consistently detect germline mosaicism below 50% or rule out the presence of large chromosomal aberrations, including rearrangements, inversions that do not change copy number of genomic regions. The assay does not detect repeat expansions. Possible intergenic variant interactions are not commented on. False positive or false negative results may occur for reasons that include: insufficient information available about rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships. Variants that do not alter an amino acid composition of a protein may be difficult to assess for pathogenicity since they may produce abnormalities in structures not assessed by conventional analysis paradigms, eg, mRNA expression and processing.1 Interpretation of the clinical significance of gene variations is limited by information about the variant that is available at the time of reporting, and by the quality and quantity of clinical information provided with the sample. As the understanding of human genetic diversity improves, the interpretation of the clinical significance of variants may change. |
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