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Long-Read Sequencing 

Comprehensive Analysis of Fabry Disease (CAFD)

Covers the Most GLA Variants in One Test with Full-Length LRS

The Challenge: Why Some Fabry Disease Patients Remain Undiagnosed

Fabry disease is s an X‑linked lysosomal storage disorder caused by mutations in the GLA geneleading to deficient alpha-galactosidase A (α⁃Gal A) activity. Because clinical manifestations are diverse, symptom-based diagnosis is difficult. The average time to diagnosis is delayed by 4 years for children and 10 years for adults.¹

 

In some cases, GLA genetic testing is the only tool for a definitive diagnosis. Over 1,000 GLA variants exist without specific hotspots. Exon analysis with NGS or Sanger sequencing often misses structural variants and deep intronic variants, leading to inconclusive findings for some patients.

Improves Diagnosis with LRS

Comprehensive Analysis of Fabry Disease (CAFD) is a full-length GLA LRS assay designed to close the diagnostic gap. Unlike current exon-based genetic tests, CAFD covers all mutation types in a single assay with high accuracy.

Outperforming Conventional Testing

  • CAFD identified the GLA variants in all probands, whereas Sanger sequencing missed critical intronic variants

  • 34.04% of the variants were novel

  • 97.92% of probands received a definitive diagnosis based on the detected variant and clinical indicators

A total of 48 unrelated suspected probands and 34 relatives were retrospectively tested using Sanger sequencing and CAFD²

Send-out Testing

When considering our send-out sequencing services:

  1. Consultation: Contact our team for the most current test specifications.

  2. Sample Preparation: Check sample types and shipment requirements to ensure high-quality results. Please check your local export regulations and logistics partners.

  3. Submission: Contact Xcelom when placing an order. Include the completed Test Request and Consent Form, along with any required documents.

Sample Requirements

Peripheral Blood: 2 mL in EDTA tube

Dried Blood Spot (DBS): 3 spots, ≥ 8mm diameter each

Long-fragment gDNA

Transport Conditions

2-8℃, arrive within 72 hours

Testing Scope

Detects GLA variants, including:

  • Pathogenic (P), likely pathogenic (LP), and some VUS SNVs/InDels

  • Some large intragenic deletions/duplications classified as P, LP or VUS

Turnaround Time (TAT)

17 working days

End-to-End Technology Transfer

Berry Genomics and Xcelom provide dedicated technology transfer package to bring this capability into your laboratory. We offer end-to-end support, including:

  • Lab Setup: Consultation on workflow, equipment, and customized kits.

  • Training: Comprehensive wet-lab training for your staff.

  • Bioinformatics Support: Our tailored software solutions streamline variant annotation and interpretation, automatically integrating public databases to assist with ACMG analysis.

Resources

References:

1. Beck M, Ramaswami U, Hernberg-Ståhl E, et al. Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry. Orphanet J Rare Dis. 2022;17(1):238.

2. Yao F, Hao N, Li D, et al. Long-read sequencing enables comprehensive molecular genetic diagnosis of Fabry disease. Hum Genomics. 2024;18(1):133.

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