Bartter Syndrome Precision Panel

Overview

Bartter Syndrome is an autosomal recessive renal tubular disorder caused by a defective salt reabsorption in the thick ascending loop of Henle resulting in hypokalemia, hypochloremia, metabolic alkalosis, high renin and aldosterone with normal blood pressure. In neonatal cases, it can be suspected before birth and diagnosed soon after birth whereas in classic cases the presentation can begin at 2 years of age or younger. The genetic heterogeneity of this disease comes from genetic mutations in either the sodium chloride/potassium chloride cotransporter or the potassium channel transporter in the thick ascending loop of Henle.
The Igenomix Bartter Syndrome Precision Panel can be used to make a directed and accurate diagnosis 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 medical care with potassium sparing diuretics, ion supplements and counselling regarding pregnancy-related considerations.
Risk assessment of asymptomatic family members according to the mode of inheritance.
Translation of genomic-informed medicine allowing for a better phenotype-genotype relationship.

GENE	OMIM DISEASES	INHERITANCE*	%GENE COVERAGE (20X)	HGMD**
*BSND*	Bartter Syndrome Infantile With Sensorineural Deafness	AR	99.95	21 of 21
*CASR*	Neonatal Severe Primary Hyperparathyroidism, Autosomal Dominant Hypocalcemia, Hypocalciuric Familial Hypercalcemia, Hereditary Chronic Pancreatitis	AD,AR	100	445 of 446
*CLCNKA*	Bartter Syndrome		99.93	5 of 5
*CLCNKB*	Bartter Syndrome, Gitelman Syndrome	AR	99.86	145 of 145
*GJB2*	Autosomal Dominant Nonsyndromic Sensorineural Deafness With Keratopachydermia And Constrictions Of Fingers And Toes, Keratitis-Ichthyosis- Deafness Syndrome, Hereditarium Mutilans And Palmoplantar Keratoderma, Kid Syndrome	AD,AR,X,XR,MU,D,G	99.89	413 of 419
*HBA1*	Alpha-Thalassemia, Heinz Body Anemias, Hemoglobin H Disease, Hbh, Alpha-Thalassemia- Intellectual Disability Syndrome Linked To Chromosome 16, Hb Bart’s Hydrops Fetalis	AD	98.87	125 of 152
*HBA2*	Alpha-Thalassemia, Heinz Body Anemias, Hemoglobin H Disease, Alpha-Thalassemia- Intellectual Disability Syndrome, Hb Bart’s Hydrops Fetalis	AD	74.46	118 of 231
*KCNJ1*	Antenatal Bartter Syndrome	AR	100	67 of 67
*MAGED2*	Antenatal Transient Bartter Syndrome	X,XR,G	96.97	NA of NA
*RIPK4*	Lethal Type Popliteal Pterygium Syndrome; Bartsocas-Papas Syndrome, Chand Syndrome	AR	99.98	16 of 16
*SLC12A1*	Bartter Syndrome	AR	99	90 of 95
*TAZ*	Barth Syndrome, Familial Isolated Dilated Cardiomyopathy	X,XR,G	100	NA of NA

*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial. 

**Number of clinically relevant mutations according to HGMD

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