top of page

Short-Read Sequencing 

SecureCari™
Expanded Carrier Screening

Standardized CES Panels for Informed Family Planning

NGS Solutions for Reproductive Risk Assessment

Single-gene disorders with a recessive inheritance pattern often have a high carrier frequency. Carriers typically do not exhibit symptoms but can pass pathogenic mutations to their offspring.

 

SecureCari™ Expanded Carrier Screening (ECS) screens for a comprehensive panel of clinically relevant genes simultaneously, facilitating informed family planning and decision-making.

  • Flexible Scope: Multiple standard panels and customization options are available to meet specific needs

  • Quality: Every report is professionally reviewed and are supported by evidence from public databases as well as our proprietary database

Target Population

Designed for healthy couples without a family history who are planning a pregnancy or are in the early stages of pregnancy

Use with Caution

This test may not be suitable for individuals with family history of genetic disorders, history of miscarriage or adverse pregnancy outcomes, consanguineous relationships, or fetal structural malformations found on ultrasound

  • Detects 4,032 pathogenic or likely pathogenic variants across 21 genes associated with 20 X-linked and autosomal recessive disorders

    ​

    Gene List: ATP7B, CFTR, DMD, F8, F9, GAA, GJB2, GLA, HBA1, HBA2, HBB, MMACHC, MMUT, NO0B1, OCA2, PAH, PTS, SLC22A5, SLC26A4, SMN1, and TYR

  • Detects 7,343 pathogenic or likely pathogenic variants across 51 genes associated with 50 X-linked and autosomal recessive disorders

    ​

    Gene covered: ABCG5, ABCG8, ACADVL, AGL, ASS1, ATP7B, BCKDHA, BCKDHB, BTD, CAPN3, CFTR, COL4A3, COL4A4, DBT, DMD, F8, F9, FAH, FANCA, FANCC, G6PC1, GAA, GCDH, GJB2, GLA, HBA1, HBA2, HBB, IDS, IDUA, MMAA, MMAB, MMACHC, MMADHC, MMUT, NAGLU, NPC1, NR0B1, OCA2, PAH, PCCA, PCCB, PTS, SLC22A5, SLC25A13, SLC26A4, SLC37A4, SMN1, SMPD1, TYR, and USH2A

  • Detects 11,280 pathogenic/ likely pathogenic variants in 129 genes associated with 155 X-linked and autosomal recessive disorders:

    • Metabolic and Endocrine Disorders (76)

    • Hematological and Immunological Disorders (12)

    • Nervous System and Neuromuscular Disorders (30)

    • Skin Disorders (6)

    • Respiratory, Visual, and Auditory Systems Disorders (12)

    • Multi-System Disorders (10)

    • Skeletal System Disorders (5)

    • Digestive and Renal System Disorders (4)

    >>Download Full Gene/Condition List

  • Screens for 1,784 autosomal recessive and X-linked recessive disorders associated with 1,766 genes

     

    Reporting: This panel is available only for couple-based testing. We report pathogenic/ likely pathogenic variants only when both partners carry variants in the same gene, or when the female partner carries an X-linked variant. Single-carrier findings for autosomal recessive conditions and variants of uncertain significance (VUS) are not disclosed in the final report.

    >>Download Full Gene/Condition List

Variant Types Reported: SNVs in exons and splice boundaries, InDels < 50bp in exons, and selected CNVs in DMD, SMN1, and HBA1/2 genes (if included in panel). Add-on analysis with LRS is available for Fragile X Syndrome (CGG/AGG repeats) and hemophilia A (F8 Inv1/ 22).

Screening Panels

Flexible options ranging from core conditions to comprehensive genomic screening.

Technological Strength & Custom Solutions

Powered by our proprietary eWES™ library and WESisi™ analysis system, our platform provides a robust foundation for best-in-class reporting and flexible panel design.

​

Leveraging our technology, Xcelom Limited and Berry Genomics offer tailored solutions for institutions looking to differentiate their market position. If you plan to design a custom panel and/or implement this test in your in-house lab using our CES/WES technology to meet local market needs, please contact us for a consultation

eWES™ Library

This PCR-free library enhances the uniformity of sequencing coverage by significantly reducing amplification bias, optimizing detection performance

WESisi™ Analysis

Best-in-class bioinformatics serve as the basis for high-quality clinical interpretation of genomics data for selected targets

Explore

Ordering

When considering our send-out sequencing services:

  1. Contact our team for the most up-to-date test details.

  2. Check sample and shipment requirements before sending out to guarantee result quality. Also verify export requirements and your logistics partner.

  3. Contact Xcelom when placing any order along with a completed Test Request and Consent Form, any required QC data and other required document.

Sample Requirements

Peripheral Blood: 2 mL in EDTA tube

gDNA

Transport Conditions

2-8℃, arrive within 72 hours

Turnaround Time

20 working days

Resources

Brochure

References:

​

bottom of page