Comprehensive Carrier Screen
A comprehensive carrier screen evaluating 278 genes (females) or 257 genes (males) for autosomal recessive and X-linked inherited disorders, powered by the Helix Exome+® platform.
Turnaround
7-14 days
Genes Tested
278
Panel Description
The Helix Comprehensive Carrier Screen analyzes 278 genes associated with a broad range of serious inherited conditions, aligned with ACMG Tier 4 guidelines. This extensive panel provides the most thorough carrier screening option, covering prevalent and clinically significant inherited disorders.
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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 as this variant is associated with low disease penetrance. 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 in this analysis. CRYL1: This gene is only included for whole gene deletions related to GJB2-related hearing loss. CYP21A2: Significant pseudogene interference may impact results. DMD: Single exon deletion/duplication analysis is limited to specific exons. FMR1: The exact size of alleles >200 CGG repeats cannot be determined. GALT: The D2 'Duarte' allele is not included. GBA: Testing method may not reliably detect certain pathogenic variants. GJB6: Only whole gene deletions reported. MTHFR: Two common polymorphisms are not reported. NPHS2: p.Arg229Gln is not reported. SMN1: Method detects sequencing variants in exon 7 and CNV in exons 7-8. WNT10A: Certain common variants associated with autosomal dominant selective tooth agenesis are not reported.
Genomic build
GRCh37
Genes Tested
278 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 Comprehensive Carrier Screen analyzes 278 genes associated with a broad range of serious inherited conditions, aligned with ACMG Tier 4 guidelines. This extensive panel provides the most thorough carrier screening option, covering prevalent and clinically significant inherited disorders.
Ready to order this test?
Contact our clinical team to order the Comprehensive Carrier Screen for your patients.