Core Carrier Screen
A core carrier screen evaluating 39 genes (females) or 30 genes (males) for disorders with carrier frequency ≥1/100, including all ACOG-recommended genes, powered by the Helix Exome+® platform.
Turnaround
7-14 days
Genes Tested
39
Panel Description
The Helix Core Carrier Screen analyzes 39 genes associated with serious inherited conditions, aligned with ACMG Tier 2 guidelines and ACOG recommendations. This comprehensive panel covers conditions with a carrier frequency greater than 1 in 100.
Order This Test
Contact our clinical team to order this panel or learn more.
Indications for Testing
Prenatal or preconception risk assessment for individuals who are pregnant or planning to conceive.
Methodology
This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in genes associated with autosomal recessive and X-linked inherited disorders.
Technical Specifications
Gene notes
CFTR: Analysis of the intron 8 polymorphic region (e.g. IVS8-5T allele) is only performed if the p.Arg117His (R117H) mutation is detected. Single exon deletion/duplication analysis is limited to deletions of previously reported exons: 1, 2, 3, 11, 19, 20, 21. CFTR variants primarily associated with CFTR-related isolated congenital bilateral absence of the vas deferens and CFTR-related pancreatitis are not included. DMD: Single exon deletion/duplication analysis is limited to exons with >1 patient reported in the UMD database and all out-of-frame exons after exon 3. Single-exon detection is limited to blood samples. FMR1: The exact size of alleles >200 CGG repeats cannot be determined; these alleles are pathogenic for X-Linked Fragile X Syndrome. Alleles with <10 repeats may fail to amplify. Methylation is not analyzed. GBA: The current testing method may not be able to reliably detect certain pathogenic variants due to pseudogene homologous recombination. SMN1: The current testing method detects sequencing variants in exon 7 and copy number variations in exons 7-8. Cannot directly detect carriers with a [2+0] SMN1 configuration.
Genomic build
GRCh37
Genes Tested
39 genes included in this panel
Ordering Information
Turnaround Time
7-14 days
Preferred Specimen
BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit
Shipping Instructions
Specimens to arrive at Helix within 96 hours of collection at ambient temperature.
Clinical Description
The Helix Core Carrier Screen analyzes 39 genes associated with serious inherited conditions, aligned with ACMG Tier 2 guidelines and ACOG recommendations. This comprehensive panel covers conditions with a carrier frequency greater than 1 in 100.
Ready to order this test?
Contact our clinical team to order the Core Carrier Screen for your patients.