Neurology


 Tests offered for neonatologists and pediatricians

  • Fluorescene In Situ Hybridization (FISH) - Microdeletions
     Angelman syndrome       Soto syndrome
     Cri du Chat-Syndrome      SRY
     DiGeorge/VCFS/CATCH22    Steroid Sulfatase(STS)
     Kallmann syndrome       Wolf-Hirschhorn syndrome
     Miller-Dieker syndrome     Williams Beuren syndrome
     Prader-Willi syndrome      XIST
     Smith-Magenis syndrome
  • Cyto SNP-850K Microarray for Constitutional Abnormalities - Blood
  • Fragile X Syndrome
  • Microarrays and Next Generation Sequencing for Autism

    Genetic Testing for Autism Spectrum Disorders

    ASD is the fastest growing serious developmental disability in the United States, affecting 1 in 68 children.


 What is Autism Spectrum Disorder?

Autism spectrum disorder (ASD) is a developmental disorder usually appearing in children under the age of three. This disorder causes social, communication (verbal and nonverbal), and behavioral problems with the severity ranging between individuals.

 What causes ASD?

In many cases the cause is unknown, and no single-etiology had been identified. However, there are some known genetic factors that seem to play an important role in the cause. ASD is thought to be influenced by genetic and environmental factors.

 How is ASD Currently Diagnosed?

  • Diagnostic and Statistical Manual of Mental Disorders (DSM-5)
  • Autism diagnostic Observation Schedule– 2nd edition (ADOS-2)
  • Autism Diagnostic Interview– Revised (ADI-R)
  • Family history studies
  • Chromosomal analysis
  • Fragile X testing is routinely offered for children with ASD because it is the most common known single gene cause of ASD
  • Chromosomal Microarray (CMA) is offered in the absence of a specific diagnosis. It provides a genome wide characterization of gene transcription, single nucleotide variation, copy number variation and epigenetic cytosine methylation.
  • Next Generation Sequencing Panel for Autism is offered after microarray for more specific diagnosis if needed.






 Why is genetic testing is a vital component to the diagnostic evaluation of children with ASD?

  • Definitive etiologies can lead to more specific resources
  • May lead to changes in medical management
  • The diagnosis may have implications for other family members
  • Give more information about what to expect in your child’s medical and developmental future
  • Associated medical conditions can be managed proactively
  • May lead to opportunities to participate in clinical trials for new treatments
  • Families are spared long, emotionally and financially exhausting diagnostic journeys
  • Reveal the likelihood that future children could have the same genetic condition


 Clinical Background

GDI’s Autism Sequencing Panel uses expert-defined content and proven next-generation sequencing technology to efficiently and cost-effectively assist in the evaluation of characteristics associated with Autism Spectrum Disorders.

Included in GDI’s Autism Sequencing Panel are genes reported in the Online Mendelian Inheritance in Man (OMIM) database on autism; genes with recurrent mutations suspected in development delays; genes with reported mutations as found in case studies involving developmental delay characteristics; genes from other publicly available ASD panels; and genes from summaries of ASD-relevant genes.

Autism Susceptibility Genes: SHANK2, ZNF804A, SLC9A9, ST7, GRPR, RPL10

Intellectual Disability Genes : DHCR7, KIRREL3, MBD5, SATB2, MEF2C, ATRX, KDM5C, OPHN1, PCDH19, PHF6, PQBP1, RAB39B, ARX, CDKL5, PTCHD1

Developmental Issue Genes: SOX5, CHD8, ANKRD11, CREBBP, PAFAH1B1, FOXP1, FOXP2, NSD1, AUTS2, HOXA1, VPS13B, EHMT1, CASK, FGD1, L1CAM, NHS, RAI1

Cellular Control Process Genes: SPAST, TSC1, TSC2, NIPBL, PON3, GABRG1, KLHL3, PDE10A, DLGAP2, GNA14, DPP6, CACNA1C, KCTD13, C18orf1, KATNAL2, SLC9A6, SMC1A, PNKP, UBE3A, MID1, ZNF507, SHANK3, AP1S2, AVPR1A, FOLR1, GABRB3, GRIN2B, IMMP2L, CNTNAP2, CNTNAP5, LAMC3, MECP2, NLGN3, NRXN1, PCDH9, PTEN, BDNF, RELN, SCN1A, SCN2A, SLC6A4, SMG6, STK3

Transcriptional Process Genes: FOXG1, TCF4, SNRPN, FMR1, NEGR1, NTNG1, ZNHIT6, PIP5K1B

Other genes included: BRAF, DOCK4, MET, PTPN11, CHD7, DMD, DPP10, HPRT1, MED12, RBFOX1, ZEB2



  •  NGS Test information

    Coverage Details:
    Cumulative target region size    328kb
    Number of target genes      101
    Number of target exons         1,728
    Probe size            80-mer
    Number of probes        >4,500
    Recommended mean coverage    100x
    Target minimum coverage      20x
    Percent exons covered based
    on coverage metrics        ≥95%

  • Advantages of Genesys Autism Sequencing Panel

    Comprehensive: Targets 101 genes implicated in ASDs
    Reliable: This assay exhibits excellent clinical sensitivity and specificity and high reproducibility
    Cost Effective: One test simultaneously tests 101 genes Fast: Results in 2 weeks or less
    Rule Out Other Causes: Reduce Testing
    Improve health outcome and reduce cost : In the United States, an estimated 11.5 billion per year is the total economic burden economical burden of ASD





  • Description Chromosomal Microarray & Autism Sequencing Panel
    Method Bead Chip Array & Targeted Next Generation Sequencing
    CPT Code Microarray: 81229, NGS: 81243, 81302, 81321, 81401, 81404, 81405, 81406, 81407, 81408
    ICD10 Codes F84.0 Autistic Disorder
    F70-F72 Mental retardation
    R62.50 Unspecified lack of expected normal physiological development in childhood
    R46.4 Slowness and poor responsiveness
    Z73.4 Inadequate social skills, not elsewhere classified
    F80.2 Mixed receptive-expressive language disorder
    F94.1 Reactive attachment disorder of childhood
    Specimen Requirements 3-5 ml Whole Blood in EDTA
    Turnaround Time 2 weeks
    Shipping Pickup/Fedex Service Available Monday – Friday
    Ship at room temperature in an insulate container by overnight courier. Do not heat or freeze. Specimens should arrove no later than 36 hours after collection.
    Testing Performed Monday-Saturday
  •  How Genesys can help

    • Our extensive insurance network includes most major payers, so testing is typically covered for patients who meet current guidelines
    • Our online portal provides results instantaneously
    • Our LIS integration with EMRs simplifies results availability and frees up time for your clinic