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Molecular Genetic Pathology Lab

The Molecular Genetic Pathology Lab performs the following testing:

  • Cytogenomic SNP Arrays:
    • SNP Microarray Handout
    • Required Consent Form for Genetic Testing
    • Cytoscan HD Assay is a qualitative assay intended for the postnatal detection of chromosomal copy number variants (CNV) associated with developmental delay and/or intellectual disability (DD/ID), autism spectrum disorders, and multiple anomalies.
    • This test may also be performed on first degree relatives of ACH patients to confirm the presence or absence of a known familial CNV.
  • Fragile X Syndrome:
  • Prader-Willi/Angelman Syndrome:
    • Consent Form for Genetic Testing
    • Assessment of the methylation status of the 15q11 locus using pyrosequencing technology for sequence-based detection and quantification of the maternal and paternal alleles.
  • MECP2 Genotyping (Rett syndrome or an MECP2-related disorder):
  • Sanger sequencing for the detection of familial variants
  • This department plans to offer full gene sequencing of UBE3A (second tier test for Angelman syndrome) and PTEN (PTEN-related disorders) and common coagulopathy mutations in Factor 2 and Factor 5. Next Generation Sequencing panels for DD/ID, autism, neurology, cardiology, pulmonology, congenital anomalies and more complex indications will also be available soon.

To order genetic testing, please complete the client requisition form available by reaching 501-364-4245 along with the Consent Form for Genetic Testing.

Scientific Director: Maria P. Alfaro, PhD.
Genetic Counselor: Julie Kaylor, MS, CGC (phone) 501-364-1316
Test/Information Schedules: (phone) 501-364-4245 | (fax) 501-364-1733
Location: Sturgis Building
Days: Monday through Friday; 8 a.m.-5 p.m.

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