Test Directory

Alport syndrome, Epstein syndrome and Fechtner syndrome (6 Genes )

Alport syndrome, Epstein syndrome, and Fechtner syndrome are genetically distinct but clinically overlapping disorders that affect the kidneys, hearing, and blood cells. Alport syndrome is the most common, with an incidence of ~1 in 5,000. It results from defects in type IV collagen (α3.α4.α5 chains), leading to progressive renal insufficiency, hematuria as the earliest sign, ocular changes such as anterior lenticonus, and sensorineural hearing loss. About 85% of cases are X-linked, while 15% are autosomal recessive or due to new mutations. Even heterozygous carriers may be at risk of chronic kidney disease. Epstein and Fechtner syndromes share overlapping clinical features with Alport syndrome, including renal and auditory involvement, but also present with hematologic abnormalities due to their distinct genetic bases.

Bardet-Biedl syndrome (25 Genes)

Bardet‑Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterised by multisystem involvement, most notably affecting vision and kidney function, with possible impact on the heart, liver, and digestive system. Common clinical features include obesity, intellectual disability, hypogonadism, and polydactyly. The estimated incidence is approximately 1 in 100,000. To date, mutations in around 25 genes have been identified, with BBS1 and BBS10 being the most frequent, accounting for ~51% and ~20% of cases, respectively.

Bartter syndrome (7 Genes)

Bartter syndrome is a rare inherited disorder of the kidney’s thick ascending limb of the loop of Henle. It is characterised by impaired salt reabsorption, leading to salt‑wasting, hypokalemia, and metabolic alkalosis. The condition results from defects in multiple transporters involved in tubular ion handling, with at least seven genes implicated across different subtypes. Genetic panel testing enables precise diagnosis, helps distinguish Bartter syndrome from overlapping tubulopathies such as Gitelman syndrome, and supports tailored clinical management.

Congenital Adrenal Hyperplasia (CAH)- MLPA

Congenital adrenal hyperplasia (CAH) is an inherited condition where the adrenal glands cannot make enough cortisol due to enzyme defects. The most common type is caused by 21-hydroxylase deficiency. Babies with CAH may show signs such as ambiguous genitalia in girls or life-threatening salt-loss crises in both sexes. These crises can lead to dehydration, low blood pressure, and dangerous electrolyte imbalances in the first weeks of life if not treated. Early testing and diagnosis are very important to prevent complications and ensure proper care.

Gitelman syndrome

Gitelman syndrome is a rare autosomal recessive salt‑wasting tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It results from defects in the thiazide‑sensitive NaCl co‑transporter (NCC) in the distal convoluted tubule of the kidney. Mutations in four genes have been implicated, with SLC12A3 being the most common cause. Genetic testing enables accurate diagnosis and differentiation from related conditions such as Bartter syndrome. Would you like me to also prepare a short comparison summary between Bartter and Gitelman syndromes, highlighting their overlapping features and key differences?

Polydactyly, excl. Bardet-Biedl and Joubert-Meckel (134 Genes)