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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
    • The Cytoscan Dx Assay is an FDA-approved diagnostic test intended for the postnatal detection of chromosomal copy number variants (CNV) underlying the genetic cause of developmental delay (DD), intellectual disability (ID), congenital anomalies, or dysmorphic features in children. If the patient does not meet these requirements, the Cytoscan HD Assay (non-FDA approved version) will be performed.
    • The Cytoscan HD Assay 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.
  • Inherited risk factors for thrombosis
    • Directed genotyping with the use of an FDA-approved Invader® diagnostic test from Hologic Inc. for the two most common mutations: R506Q mutation in Factor V Leiden and G20210A mutation in Prothrombin (Factor II).
  • MECP2 Genotyping (Rett syndrome or an MECP2-related disorder):
  • Sanger sequencing for the detection of familial variants
  • Cystic Fibrosis: Genotyping for the 46 most common mutations in the CFTR gene via Invader technology.
  • This department plans to offer full gene sequencing of UBE3A (second tier test for Angelman syndrome) and PTEN (PTEN-related disorders). 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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