Molecular Genetics Laboratory

The molecular genetics laboratory is part of the Molecular Pathology Laboratories in charge of testing for molecular markers important in many inherited conditions. Our current testing menu includes:

  • CFTR Full Gene Sequencing
  • Chimerism Post Transplant
  • Chimerism Post Transplant Panel (CD3 and CD33)
  • Chimerism Pre Transplant Donor
  • Chimerism Pre Transplant Recipient
  • Genetics Cystic Fibrosis Carrier Screen
  • Genetics Cystic Fibrosis Genotype
  • Genetics Fragile X Syndrome
  • Genetics Fragile X-Associated Tremor/Ataxia Syndrome
  • Genetics Spinal Muscular Atrophy Diagnostic SMN1 and SMN2
  • Maternal Cell Contamination Genotyping

All specimens submitted for analysis must be accompanied by a requisition form.

Samples may be submitted in several ways:

  • Peripheral blood/ bone marrow samples (should be collected in EDTA only).
  • Body fluid samples (require a dedicated sample).
  • Tubes that have been opened and samples for obtained for other tests will be considered on a case-by-case basis (at the director's discretion).

Normal turnaround time is estimated to be 17 days except for Chimerism Post Transplant testing which is 4 days.

Please contact Dr. Christopher Giauque 336-713-7579 for any related questions.