Clinical Sequencing

Actionable and affordable testing

Carrier Screening

Carrier screening provides couples with information on their risk of having a child affected by one or more of a large range of genetic conditions. GeneAware™ is a comprehensive universal carrier screening panel that screens for genetic variations in 400+ genes known to be associated with genetic disorders, such as congenital adrenal hyperplasia (CAH) and spinal muscular atrophy (SMA).

Carrier screening is recommended for all reproductive-aged women who are pregnant or planning to get pregnant.

400++
Genes

GeneAware™ screens for variations in 400+ genes known to be associated with genetic disorders

99%
Genetic regions

Covered in the panel are sequenced at >20x

Benefits of testing

  • Understand your patient’s disease carrier status
  • Plan their pregnancy via Pre-Implantation Genetic Testing with IVF
  • Pursue alternative options such as using a sperm or egg donor or adoption
  • Have prenatal diagnosis during pregnancy
  • Arrange specialist care during pregnancy and delivery if necessary
  • Prepare for management and, if available, treatment of an affected child

Hereditary Cancer Testing

Approximately 1 in 6 people in Southeast Asia will be affected by cancer during their lifetimes 1. Hereditary cancers make up 5-10% 2 of cancer cases and are caused by inherited pathogenic germline mutations in one or more genes.

Hereditary cancer testing is key to identifying patients and families who may be at increased risk of developing certain types of cancer for early detection and prevention 3,4.

Percentage of cancer patients with germline mutations 5

Recent research revealed that the high germline-positive rate (pathogenic germline variants) was detected as >30% in a large, diverse cancer patient population (n=2,023)5.

Indications for testing

Patients with more than 1 primary cancers

Patients with rare cancers at any age

3 or more close family members diagnosed with cancer

Age of cancers diagnosed for close family members is younger than 50

History of cancer which has a high incidence in the individuals ethnic group

Individuals with previous targeted genetic testing who may benefit from an extended panel

References
  1. Sung H, Ferlay J, Siegel RL, et al. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries.
    CA Cancer J Clin. 2021;71(3):209-249. doi:10.3322/caac.21660
  2. ACOG Committee Opinion Number Number 793, 2019. Hereditary Cancer Syndromes and Risk Assessment.
  3. Lincoln SE, Nussbaum RL, Kurian AW, et al. Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.
    JAMA Netw Open. 2020;3(10):e2019452.
  4. Pollard S, Kalloger S, Weymann D, et al. Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication.
    Health Expect. 2020;23(4):884-892. doi:10.1111/hex.13062.
  5. Lincoln SE, Nussbaum RL, Kurian AW, et al. Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer
    [published correction appears in JAMA Netw Open.2021 Jul 1;4(7):e2123147].
    JAMA Netw Open. 2020;3(10):e2019452. Published 2020 Oct 1. doi:10.1001/jamanetworkopen.2020.19452

Whole Exome Sequencing

Through robust sequencing of up to 30,000 genes, Whole Exome Sequencing can provide important information about the underlying genetic causes to guide treatment decisions.

  • 150x average sequencing depth
  • 99.4% of reportable bases covered at >20x depth1,2.

WES Diagnosis Rate

29%

Proband WES

 

 

 

30%

WES Trio

 

 

 

39%

Critical WES Trio

 

 

 

41%

Prenatal WES Trio

Indications for testing

Exhausted Genetic testing options

Patients with a long list of differential diagnoses

Atypical presentation of disease

Whole Genome Sequencing

Whole Genome Sequencing (WGS) is an analysis of a patient’s entire nuclear and mitochondrial genomes. Compared to gene panels which only examine specific changes in a small subset of DNA, WGS can capture virtually all disease-causing genetic variations in both coding and non-coding regions, making it the most comprehensive germline genetic testing.

It is suitable for patients who have a broad spectrum of phenotypic features without an obvious clinical diagnosis.

Indications for testing

Intellectual disability

Autism spectrum disorders

Differential diagnosis

Development delays

Multiple congenital anomalies

Failure to thrive

Patients with extensive disease

Dysmorphic features

Epilepsy syndromes

Neuro- developmental disorders

How to order

Complete the Test Requisition Form &
Patient Consent Form

Collect and ship
patient’s specimen

Receive report
via email

Baylor Genetics’s preferred partner in Southeast Asia.

40 + Years
of Innovation

4 Million +
Clinical Test Performed

1 Million +
Families Helped

Baylor Genetics pioneered the history of genetic testing, is accredited by the College of American Pathologists (CAP) and certified under the Clinical Laboratory Improvement Amendments (CLIA).

Copyright © 2022 MiRXES Pte Ltd. All rights reserved. | Privacy Policy
Scroll to Top