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Long-Read Sequencing 

Comprehensive Analysis of Gaucher Disease

Key Advantage

Precise Differentiation of GBA1 and GBAP1

Reduces pseudogene-related false positives or missed variants​

Complete Variant Detection

Detects a broad spectrum of clinically relevant variant types across the full GBA1 sequence, including SNVs, InDels, large deletions

Resolves Phasing

Determines whether multiple variants are in cis or trans, often without parental testing (Duo or Trio)

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 the GBA1 variants associated with Gaucher disease, including:

  • P, LP, and some VUS SNVs/InDels

  • Some large intragenic deletions classified as P/LP/VUS

Turnaround Time (TAT)

15 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 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. Consortium For The Application Of Single-Molecule Real-Time Sequencing For The Precision Medicine And Control Of Thalassemia, Group Of Clinical Genetics Medical Genetics Branch Of Chinese Medical Doctor Association, Wu L. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025;42(4):385-396.

2. Liang Q, Gu W, Chen P, et al. A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA). J Mol Diagn. 2021;23(9):1195-1204.

3. Huang R, Liu Y, Xu J, et al. Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia. Arch Pathol Lab Med. 2024;148(7):797-804.

4. Li S, Hua R, Han X, et al. Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome. J Transl Med. 2025;23(1):307.

5. Liang Q, He J, Li Q, et al. Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia. Clin Chem. 2023;69(3):239-250.

Long-Read GBA1 Sequencing for Gaucher Disease

Gaucher disease is an autosomal recessive lysosomal storage disorder caused by pathogenic variants in GBA1. It can affect multiple organs, including the liver, spleen, bone, lung, and nervous system. Clinical subtypes include type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 chronic neuronopathic disease.

 

Molecular testing of GBA1 is technically challenging because of the highly homologous pseudogene GBAP1 and the presence of complex recombinant alleles or structural variants. Standard Sanger or short-read NGS workflows may require additional confirmatory assays to fully resolve these variants.

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Our long-read Gaucher Disease assay is designed to overcome these limitations by distinguishing GBA1 from GBAP1 and detecting diverse variants in a single test. This provides comprehensive variant profiling and supports accurate diagnosis and genetic counselling.

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