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Inherited Kidney Diseases

Kidney panels available

Swiss DNAlysis offers genetic tests developed by our experts in various fields. Our tests are constantly evolving based on the knowledge generated in various fields. If you want a custom genetic test or specific for some genes only, we can adjust the test for you, contact us here.

Alport Syndrome is a genetic heterogeneous disease charachterized by affection of basement membranes in kidney, ear and eye. 85% is X-linked dominant and 15% autosomal recessive and dominant.

Bardet-Biedl syndrome is a rare autosomal recessive ciliopathy with multisystemic compromise, affecting vision, kidneys, and eventually heart, liver and digestive system.

Bartter syndrome is a rare inherited disease charachterized by thickness of the ascending limb of the loop of Henle which results in salt wasting, low potassium and metabolic alkalosis.

Gitelman Syndrome is a rare salt-losing tubulopathy characterized by hipokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited and is caused by mutations in the SLC12A3 genes encoding the thiazide sensitive sodium-chloride co-transporter (NCC)

The CAH are recessive disorders in cortisol biosynthesis.  The androgen excess is clinically evident in newborn girls, whose external genitalia are virilized. The  most common enzyme affected is the 21-hydroxylase deficiency (CYP21A2-gene).

CNS is a rare kidney disease usually symptomatic within the first 3  months of life or even intrauterine. The congenital Finnish type nephrotic syndrome is due to recessive mutations in the gene NPHS1, usually progressess rapidly to end-stage kidney disease.

HKC accounts for approximately 5% of all kidney cancers. HKC is usually associated to polyneoplasic genes, providing risk to develop tumors in other organs, this includes Von-Hippel-Lindau Syndrome, Birt-Hogg-Dubé Syndrome, hereditary leiomyomatosis and renal cell cancer, Cowden Syndrome, hereditary paraganglioma-pheochromocytoma syndrome, …

NL is a common kidney stone formation disease. The incidence of NL has progressively increased during the past 30 years in most industrialized   etiology of the most frequent forms of calcium stones is multifactorial; involving nutritional, environmental, and polygenic genetic determinants.

NPH  is an autosomal recessive inherited disease  characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. The estimated incidence varies from 1:50,000 to 1:1,000,000.

Hereditary cystic kidney diseases are considered as “ciliopathies” caused by abnormalities of the “primary cilia” situated on the tubules. As a result of dysplasia and dysfunction of cilia, formation of cysts occurs at various stages of life. Although occurring at a low incidence, hereditary cystic kidney diseases that develop from the fetal stage to childhood are diverse and are often associated with systemic disorders.

Primary distal renal tubular acidosis (dRTA) is a rare genetic disease usually manifests during childhood or adolescence characterized by distal tubular dysfunction leading to metabolic acidosis and alkaline urine. Patients develop hyperchloremic metabolic acidosis, growth retardation is a major concern in these children.