ASCL5 Single Gene

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Sequence variants and/or copy number variants (deletions/duplications) within the ASCL5 gene will be detected with >99% sensitivity. Variants classified as unknown significance (VUS), likely pathogenic, or pathogenic will be reported. Benign and likely benign variants are generally not reported. Reflex to clinical exome ("All-in-One") and whole exome ("Whole-in-One") is available by request.

Test Description

3 - 5 weeks
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ASCL5 ( 1 gene )
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Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
These test results and variant interpretation are based on the proper identification of the submitted specimen, accuracy of any stated familial relationships, and use of the correct human reference sequences at the queried loci. In very rare instances, errors may result due to mix-up or co-mingling of specimens. Positive results do not imply that there are no other contributors, genetic or otherwise, to this individual's phenotype, and negative results do not rule out a genetic cause for the indication for testing. For this specific test, Newborn Genetic Analysis, a negative result indicates that no likely pathogenic/pathgenic variant(s), that results in a diagnostic finding that may significantly impact the health of the individual, has been detected in the genes tested. Carrier status will not be reported for this test. Official gene names change over time. Fulgent uses the most up to date gene names based on HUGO Gene Nomenclature Committee ( recommendations. If the gene name on report does not match that of ordered gene, please contact the laboratory and details can be provided. Result interpretation is based on the available clinical and family history information for this individual, collected published information, and Alamut annotation available at the time of reporting. This assay is not designed or validated for the detection of low-level mosaicism or somatic mutations. This assay will not detect certain types of genomic aberrations such as translocations, inversions, or repeat expansions (eg. trinucleotide or hexanucleotide repeat expansion). DNA alterations in regulatory regions or deep intronic regions (greater than 20bp from an exon) may not be detected by this test. Unless otherwise indicated, no additional assays have been performed to evaluate genetic changes in this specimen. There are technical limitations on the ability of DNA sequencing to detect small insertions and deletions. Our laboratory uses a sensitive detection algorithm, however these types of alterations are not detected as reliably as single nucleotide variants. Rarely, due to systematic chemical, computational, or human error, DNA variants may be missed. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the confounding contribution of pseudogene sequences or other highly-homologous sequences, sometimes these may still interfere with the technical ability of the assay to identify pathogenic alterations in both sequencing and deletion/duplication analyses. Deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. When novel DNA duplications are identified, it is not possible to discern the genomic location or orientation of the duplicated segment, hence the effect of the duplication cannot be predicted. Where deletions are detected, it is not always possible to determine whether the predicted product will remain in-frame or not. Unless otherwise indicated, deletion/duplication analysis has not been performed in regions that have been sequenced by Sanger.

CPT Code 81479x2

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.