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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

Test 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.

View the complete description of this panel

Have Questions?

Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

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 notesBTD: 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 (... Genomic buildGRCh37

Genes Tested

ABCA3
ABCC8
ABCD1
ACADM
ACADS
ACADVL
ACAT1
ADA
ADAMTS2
AGA
AGL
AGXT
AHI1
AIRE
ALDH3A2
ALDOB
ALG6
ALMS1
ALPL
AMT
ANO10
ARG1
ARSA
ARSB
ARX

Showing 25 of 278 genes in this panel

Other Tests to Consider

Test

Fundamental Carrier Screen

2

genes

Test

Core Carrier Screen

39

genes

Test

Expanded Carrier Screen

115

genes

Important Panel Information

Turnaround time: Typically 7 to 21 days

Preferred specimen: Oragene Dx Saliva Collection Kit

Shipping instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.

This panel includes genes that have an established association with the autosomal recessive or X-linked conditions described in the panel description here.

Variants are interpreted manually using locus-specific databases, literature searches, and other molecular biological principles. Variants classified as pathogenic, likely pathogenic, or risk allele which are located in the coding regions and nearby intronic regions (+/- 20 bp) of the genes listed are reported. Variants of uncertain significance (VUSes) are not reported.