High Frequency Carrier Screen (10 Genes)


Related Gene(s): ACADM, CFTR, DHCR7, DMD, FMR1, HBA, HBB, PAH, PMM2, SMN1

The high frequency pan-ethnic panel provides carrier screening for the following genetic disorders due to the relatively elevated carrier frequencies and high detection rates in most ethnic groups with severe, early onset clinical presentation: Alpha-thalassemia, beta-thalassemia, beta-globin-related hemoglobinopathies: HbC variant, sickle cell disease, congenital disorder of glycosylation: type Ia, cystic fibrosis, Duchenne muscular dystrophy/Becker muscular dystrophy, fragile x syndrome, medium chain acyl-CoA dehydrogenase deficiency, phenylalanine hydroxylase deficiency, Smith-Lemli-Opitz syndrome, and spinal muscular atrophy.

Although this testing can detect the majority of disease-causing pathogenic variants, a negative result does not eliminate the possibility that an individual is a carrier of a rare pathogenic variant that was not identified. Please refer to the residual risk tables found in the Expanded Carrier Screen brochure to determine the risk following a negative result.

For prenatal samples, please contact our laboratory at 212-241-7518 for more information.


Specimen Requirements

  • Blood: One 5-10 mL tube with ACD (yellow top) and two 5-10 mL tubes with EDTA (lavender top)
  • We accept saliva specimens to perform follow-up molecular testing for partners of identified carriers. Please contact our laboratory to obtain saliva kits

Ordering Information

Shipping

  • Ship at room temperature

Turnaround Time

  • 7-14 days


Resources

Carrier Screening Requisition
Expanded Carrier Screen Brochure