September 2016 Monthly Test Updates

Published on 09/01/16

New Test Launches and Updates

 The following new tests are now available:

  • EXMX3 Expedited Medical EmExome: Clinical Exome Sequencing, Family Trios
  • EXMXX Expedited Medical EmExome: Clinical Exome Sequencing, Proband Only
  • MM640 Hemophagocytic Lymphohistiocytosis: Sequencing Panel

The below test updates are live:

  • XB040 Rhabdomyolysis: Tier 1 Panel – Test discontinued. Rhabdomyolysis will be offered a la carte moving forward, with separate biochem and molecular offerings.
  • BB041 Rhabdomyolysis: Tier 2 Panel – Test discontinued. Rhabdomyolysis will be offered a la carte moving forward, with separate biochem and molecular offerings.
  • SM Spinal Muscular Atrophy: SMN1 Common Deletion Testing – Methodology updated from PCR to MLPA.
  • HY Congenital Hypotonia Panel: Spinal Muscular Atrophy Deletions, Prader-Willi/Angelman Syndrome Methylation, Myotonic Dystrophy, and Uniparental Disomy 14 – Methodology updated for SMA component, from PCR to MLPA.
  • XM060 TAR Syndrome: Sequencing and 1q21.1 Deletion/Duplication Panel – Price and CPT Codes updated.
  • MM260 Macrocephaly and Overgrowth Syndromes: Sequencing and Beckwith-Wiedemann Syndrome Methylation Panel - Added Beckwith-Wiedemann syndrome methylation and the following genes: AKT1, AKT2, AKT3, CDKN1C, DNMT3A, GNAQ, MTOR, PIK3R2, and RNF135. The name and CPT codes were also updated.
  • MXIL1 X-Linked Intellectual Disability: Sequencing Panel – Added SYNGAP1 to the panel.
  • MM190 Hearing Loss: Sequencing Panel - Added the following genes: ADCY1, AIFM1, ALMS1, ATP2B2, C10orf2, CABP2, CACNA1D, CATSPER2, CLIC5, CLPP, COL2A1, COL4A3, COL4A4, COL4A6, COL9A1, COL9A2, DCDC2, DIAPH3, EDN3, EDNRB, ELMOD3, EPS8, ESPN, FAM65B, FOXI1, ADGRV1, GRXCR2, HOMER2, KARS, KCNQ4, LARS2, MITF, MTNRN1, NLRP3, OPA1, OSBPL2, OTOG, OTOGL, P2RX2, PAX3, PDZD7, DFNB59, PNPT1, POLR1D, POLR1C, PTPRQ, SCN7A, SIX5, SLITRK6, SNAI2, SOX10, STRC, SYNE4, TBC1D24, TCOF1, TMEM132E, and TSPEAR. The CPT Codes was also updated.
  • BNBSF NBS Follow-up: Panel Methylmalonic Acidemia (MMA)/Propionic Acidemia (PA) – Specimen requirements updated to include plasma in EDTA tube for homocysteine testing.

New and Updated Gene Panels

Industry-leading number of gene panels

EGL Next Generation Sequencing Panels include comprehensive, evidence-based gene lists, improved turnaround times, and reduced pricing.