Genome Wide CNV+

  • Test Description
  • CPT Codes

Test Description

  • Del/Dup (included)
  • Exclude VUS
  • MCC
  • Duo/Trio
  • Prenatal
2 - 3 weeks
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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)
Test results and variant interpretation are based on the proper identification of the submitted specimen and the use of 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 contributions, genetic or otherwise, to the patient's phenotype, and negative results do not rule out a genetic cause for the indication for testing. Result interpretation is based on the collected information available at the time of reporting. CNV+ will not detect balanced alterations (reciprocal translocations, Robertsonian translocations, inversions, and balanced insertions), low level mosaicism, point mutations, insertion/deletions within genes, methylation abnormalities, or genomic imbalances in segmentally duplicated regions. CNV+ is not designed to detect small copy number variants (<100kb) unless there is a significant copy number change (homozygous deletion or duplication >=4X). Due to high similarity of certain regions on chromosome X and chromosome Y, CNVs in the following regions may not be detected for male patients (chrX:60000-2699520; chrX:154930289-155260560; chrY:10000-2649520; chrY:59033286-59363566).

Gene Notes
CD40LG The current testing method does not assess trinucleotide repeat expansions in this gene.
DIP2B The current testing method does not assess trinucleotide repeat expansions in this gene.
GALNT12 Due to high GC content, copy-number variants located in exon 1 of the GALNT12 gene (NM_024642.4) cannot be reliably detected and will not be reported.
IL11RA The current testing method does not assess repeat expansions in this gene.
PIK3CA Because the vast majority of PIK3CA pathogenic variants arise postzygotic and are thus mosaic, more than one tissue may need to be tested. Failure to detect a PIK3CA pathogenic variant does not exclude a clinical diagnosis of the PIK3CA-associated segmental overgrowth disorders in individuals with suggestive features (PubMed: 23946963).
RUNX2 The current testing method does not assess trinucleotide repeat expansions in this gene.
SMN2 The current testing method for SMN2 (NM_017411.3) is limited to sequencing and deletion/duplication analysis of exon 7-8, under the condition that a diagnostic result was detected in SMN1. Sequencing and deletion/duplication analysis are not performed on any other region in this gene.
SOX3 The current testing method does not assess trinucleotide repeat expansions in this gene.
TPRN Exon 1 of this gene is currently not amenable to current sequencing methods, therefore, sequencing and deletion/duplication analysis will not be performed for this region.
ZIC2 The current testing method does not assess trinucleotide repeat expansions in this gene.
ZIC3 The current testing method does not assess trinucleotide repeat expansions in this gene.
CPT Code 81229

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.