Waardenburg Syndrome Precision Panel

Overview

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 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.

GENE	OMIM DISEASES	INHERITANCE*	% GENE COVERAGE (20X)	HGMD**
*EDN3*	Congenital Failure Of Autonomic Control, Waardenburg Syndrome, Ondine Syndrome, Waardenburg- Shah Syndrome	AD,AR	100	20 of 22
*EDNRB*	Abcd Syndrome, Waardenburg- Shah Syndrome, Waardenburg Syndrome	AD,AR	99.55	70 of 72
*KIT*	Gastrointestinal Stromal Tumor, Acute Myeloid Leukemia, Mast Cell Disease, Piebald Trait	AD	100	112 of 112
*KITLG*	Autosomal Dominant Deafness, Familial Progressive Hyperpigmentation, Waardenburg Syndrome	AD	99.93	10 of 10
*MITF*	Coloboma, Osteopetrosis , Microphthalmia, Macrocephaly, Albinism, And Deafness, Tietz Syndrome, Waardenburg Syndrome, Waardenburg-Shah Syndrome	AD,AR	100	72 of 72
*PAX3*	Craniofacial-Deafness- Hand Syndrome, Alveolar Rhabdo- myosarcoma, Waardenburg Syndrome, Craniofacial- Deafness-Hand Syndrome	AD,AR	99.98	157 of 157
*SMOC1*	Microphthalmia With Limb Anomalies	AR	100	19 of 19
*SNAI2*	Piebald Trait, Waardenburg Syndrome	AD,AR	99.79	1 of 2
*SOX10*	Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, Waardenburg- Shah Syndrome	AD	99.74	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