Expanded Carrier Screen
An expanded carrier screen evaluating 115 genes (females) or 99 genes (males) for autosomal recessive and X-linked disorders with carrier frequency ≥1/200, powered by the Helix Exome+® platform.
Turnaround
7-14 days
Genes Tested
115
Panel Description
The Helix Expanded Carrier Screen analyzes 115 genes associated with serious inherited conditions, aligned with ACMG Tier 3 guidelines. This comprehensive panel covers conditions with a carrier frequency greater than 1 in 200.
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
BTD: If detected, the variant NM_001370658.1:c.1270G>C (p.Asp424His) will not be reported. CFTR: Analysis of the intron 8 polymorphic region is only performed if p.Arg117His is detected. Single exon deletion/duplication analysis is limited to deletions of previously reported exons: 1, 2, 3, 11, 19, 20, 21. CRYL1: Only whole gene deletions related to GJB2-related hearing loss are reported. CYP21A2: Significant pseudogene interference may impact results. CYP21A2 variants primarily associated with non-classic CAH are not included. DMD: Single exon deletion/duplication analysis is limited to specific exons. FMR1: The exact size of alleles >200 CGG repeats cannot be determined. Methylation is not analyzed. GALT: The D2 'Duarte' allele is not included. GBA: The current testing method may not reliably detect certain pathogenic variants due to pseudogene recombination. GJB6: Only whole gene deletions related to GJB2-related hearing loss reported. SMN1: Method detects sequencing variants in exon 7 and CNV in exons 7-8.
Genomic build
GRCh37
Genes Tested
115 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 Expanded Carrier Screen analyzes 115 genes associated with serious inherited conditions, aligned with ACMG Tier 3 guidelines. This comprehensive panel covers conditions with a carrier frequency greater than 1 in 200.
Ready to order this test?
Contact our clinical team to order the Expanded Carrier Screen for your patients.