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Molecular Genetic Pathology, Molecular Microbiology Division

The Molecular Genetic Pathology Lab performs the following testing:

  • Fragile X Syndrome: Polymerase chain reaction for accurate sizing of FMR1 allele size; methylation status of permutation and full mutation alleles is also performed.
  • Prader-Willi/Angelman Syndrome: Assessment of the methylation status of the 15q11 locus using pyrosequencing technology for sequence-based detection and quantification of the maternal and paternal alleles.
  • Cytogenomic SNP Arrays: 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), congenital anomalies, and/or dysmorphic features.
  • This department plans to offer very soon Sanger sequencing for the detection of familial variants and the diagnosis of single gene disorders, Next Generation Sequencing panels for DD/ID, autism, neurology, cardiology, pulmonology, congenital anomalies and more complex indications.

Scientific Director of Molecular Genetic Pathology: Maria Alfaro, PhD.

Technical Chief: Sherry Childress, MT (ASACP)

Test/Information Schedules: (phone) 501-364-4242 | (fax) 501-364-6880

Location: Sturgis Building

Days: Monday through Friday; 8 a.m.-5 p.m.

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