EGL is one of only a few clinical diagnostic laboratories to openly share data ... *Please note that deletion/duplicatio
Autism Spectrum Disorders About Emory Genetics Laboratory (EGL)
EGL specializes in genetic diagnostic testing, with 45 years of clinical experience and board-certified laboratory directors and genetic counselors reporting out cases. EGL offers a combined 1100 molecular genetics, biochemical genetics, and cytogenetics tests under one roof and custom testing for all medically relevant genes, for domestic and international clients. Equally important to improving patient care through quality genetic testing is the contribution EGL makes back to the scientific and medical communities. EGL is one of only a few clinical diagnostic laboratories to openly share data with the NCBI freely available public database ClinVar (>7000 variants on >500 genes) and is also the only laboratory with a free online database (EmVClass), featuring a variant classification search and report request interface, which facilitates rapid interactive curation and reporting of variants.
Autism Spectrum Disorders
Autism spectrum disorders (ASDs) are a group of neurodevelopmental disorders, which include autism, pervasive developmental delay not otherwise specified (PDD-NOS), and Asperger syndrome. ASDs are characterized by impairments in social relationships, variable degrees of language and communication deficits, and repetitive behaviors and/or a narrow range of interests. Individuals with ASDs have variable clinical presentations, ranging in severity among individuals and ASDs subtypes. ASDs may occur as an isolated finding or as part of a syndrome with other clinical features, such as intellectual disability (up to ~50%) and seizures (~25%). A significant proportion of ASDs have been shown to be genetic in origin. Known genetic causes of ASDs include cytogenetically visible chromosome abnormalities (3-5%), copy number variants (including submicroscopic deletions and duplications (~6-7%)), and single-gene disorders (~5%). EGL offers an integrated testing strategy for comprehensive cytogenetic, biochemical, and molecular analysis of ASDs. The Tier 1 panel will identify most genetic causes of ASDs. The Tier 2 panel is recommended if Tier 1 panel results are negative. The Tier 1 panel may be ordered to include: (1) cytogenetics and molecular testing only; (2) biochemical testing only; or (3) cytogenetics, molecular, and biochemical testing. Autism Spectrum Disorders: Complete Tier 1 Panel Autism Spectrum Disorders Tier 1: Autism Spectrum Disorders Tier 1: Biochemical Panel Cytogenetics & Molecular Panel
EmArray Cyto and fragile X CGG repeat analysis
Urine organic acid, plasma amino acid, SLO, and LSD screen
Autism Spectrum Disorders: Tier 2 Panel
60-gene NGS Panel, 60-gene-targeted array CGH, and FRAXE CCG repeat analysis
Autism Spectrum Disorders: Complete Tier 1 Panel Cytogenetic: For individuals with a diagnosis of ASD, ~10% will have clinically relevant genomic detected imbalances by cytogenetic array Molecular: For individuals with a diagnosis of ASD, 2-3% will have fragile X syndrome. CGG repeat expansion testing will indicate full mutation and premutation status Biochemical: Expanded phenotypes for some metabolic conditions may include ASDs References: 1. Committee on Bioethics, Committee on Genetics, The American College of Medical Genetics and Genomics Social, Ethical, and Legal Issues Committee. (2013, March 1). Ethical and Policy Issues in Genetic Testing and Screening of Children. Pediatrics, Vol. 131, pp. 620 -622. 2. Michelucci et al., (2012), Curr Neurol Neurosci Rep, 12:445-455. 3. Nicita et al., (2012), Seizure, 21:3-11. 4. Pal et al., (2010), Nat Rev Neurol, 6:445-453. 5. Pandolfo, (2011), Semin Neurol, 31:506-518. 6. Poduri and Lowenstein, (2011), Curr Opin Genet Dev, 21:325-332.
Autism Spectrum Disorders Autism Spectrum Disorders: Tier 2 Panel The Autism Spectrum Disorders - Tier 2 Panel includes next generation sequencing (NGS), a gene-targeted array CGH to detect deletions/duplications, and a FRAXE (AFF2/FMR2) CCG Repeat Analysis to determine CCG repeat size and methylation status. The NGS ASDs panel includes 62 genes, which have ASD or autistic features as part of the clinical profile. These genes have been associated with non-syndromic ASDs and with conditions involved in the differential diagnosis of Rett and/or Angelman syndrome. Your Partner in Genetic Healthcare Genes Included on the Autism NGS Panel* ADSL
CACNA1C
CYP27A1
FOXG1
MBD5
NLGN3
PCDH19
RAB39B
SMC1A
AFF2
CASK
DHCR7
FOXP1
MECP2
NLGN4X
PHF6
RAI1
TCF4
AP1S2
CDKL5
DMD
FOXP2
MED12
NR1I3
PNKP
RELN
UBE2A
ARX
CHD7
EHMT1
HPRT1
MEF2C
NRXN1
PQBP1
SCN1A
UBE3A
ATRX
CHD8
FGD1
KDM5C
MID1
NSD1
PTCHD1
SLC2A1
VPS13B
BCKDK
CNTNAP2
FMR1
L1CAM
NHS
OPHN1
PTEN
SLC9A6
ZEB2
BRAF
CREBBP
FOLR1
MAGEL2
NIPBL
PAFAH1B1
PTPN11
SMARCB1
*Please note that deletion/duplication analysis is not completed for all genes in the panel. Some genes on this panel are associated with additional phenotypes. All genes on the next generation sequencing panel may be ordered separately. Genes included on panels are subject to change. Please visit www.geneticslab.emory.edu/Autism for current panel information.
Why Choose EGL?
• The EGL approach to ASD testing includes biochemical, cytogenetics, and molecular analysis • The American Academy of Pediatrics recommends genetic testing for better treatment options • NGS at EGL includes deletion/duplication analysis of all genes on the panel, as well as free parental testing for up to two changes identified on the panel • Guaranteed 100% coverage with Sanger sequencing fill-in for low coverage regions Test Code
Test Name
CPT®** Code(s)
XC020
Autism Spectrum Disorders: Complete Tier 1 Panel
81228 (x1), 81243 (x1), 83789 (x1)
XC021
Autism Spectrum Disorders: Tier 1 Cytogenetic and Molecular Panel
81228 (x1), 81243 (x1), 88230 (x1)
BB021
Autism Spectrum Disorders: Tier 1 Biochemical Panel
82139 (x1), 82489 (x1), 82544 (x1), 82570 (x2), 83789 (x1), 83864 (x1), 83918 (x1), 84377 (x1)
MM021
Autism Spectrum Disorders: Tier 2 Panel
81243 (x1), 81302 (x1), 81321 (x1), 81401 (x1), 81404 (x1), 81405 (x1), 81406 (x1), 81407 (x1), 81408 (x1)
MD021
Autism Spectrum Disorders: Deletion/Duplication Panel
81161 (x1), 81323 (x1), 81403 (x1), 81404 (x1), 81405 (x1), 81406 (x1)
**CPT® is a registered trademark of the American Medical Association.
For more information about EGL and the nearly 1100 tests we offer: EMAIL CALL WEB
[email protected] 404-778-8499 www.geneticslab.emory.edu
