Waardenburg Syndrome (WS) is a genetic disorder characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, blue eyes (heterochromia irides), and sensorineural hearing loss. It also presents with other clinical features involving musculoskeletal abnormalities, gastrointestinal malformations and neurological defects. WS is considered a defect in the melanocyte and neural crest development, where a complex interconnecting regulatory network of genes work in synergism for an appropriate development of melanocytes. It is typically inherited in an autosomal dominant pattern.
The Igenomix Waardenburg Syndrome Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of hearing loss ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Waardenburg Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Cleft lip
- Extremely pale blue eyes or nonmatching eye colors
- Pale color skin, hair and eyes
- Decreased intellectual function
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team in the form of hearing aids and cochlear implants, social services and speech therapy.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
- Unravel important developmental pathways in the neural crest and derivatives that could potentially lead to Waardenburg Syndrome.
Genes & Diseases
% GENE COVERAGE (20X)
20 of 22
70 of 72
112 of 112
10 of 10
72 of 72
157 of 157
19 of 19
1 of 2
139 of 147
* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial
** HGMD: Number of clinically relevant mutations according to HGMD
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Ringer J. (2019). Identification of Waardenburg Syndrome and the Management of Hearing Loss and Associated Sequelae: A Review for the Pediatric Nurse Practitioner. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners, 33(6), 694–701. https://doi.org/10.1016/j.pedhc.2019.06.001
Minami, S. B., Nara, K., Mutai, H., Morimoto, N., Sakamoto, H., Takiguchi, T., Kaga, K., & Matsunaga, T. (2019). A clinical and genetic study of 16 Japanese families with Waardenburg syndrome. Gene, 704, 86–90. https://doi.org/10.1016/j.gene.2019.04.023