Test Description

Test Description

Order Options:
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
Turnaround Time:
3-5 weeks
Cost:
Call for details
Genes:
AARS, ASAH1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC3, EXOSC8, FBXO38, GARS, HEXA, HSPB1, HSPB3, HSPB8, IGHMBP2, LAS1L, PLEKHG5, REEP1, SCO2, SLC5A7, SMN1, SMN2, TRPV4, UBA1, VAPB, VRK1 ( 29 genes )
Coverage:
96% at 20x
Specimen Requirements:
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Test Limitations:
Approximately 5%-8% of the general population have two copies of SMN1 on a single chromosome and a deletion on the other chromosome, known as a [2+0] configuration (PubMed: 20301526). The current testing method cannot detect carriers with a [2+0] SMN1 configuration. As a result, a negative result for carrier testing greatly reduces but does not eliminate the chance that a person is a carrier.

Gene Specifics:
Gene Notes
SMN1 The current testing method detects sequencing variants in exon 7 and copy number variations in exons 7-8 of the SMN1 gene (NM_022874.2). Sequencing and deletion/duplication analysis are not performed on any other region 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.