Test Directory

Skeletal dysplasias, classic (59 Genes)

Skeletal dysplasias, extended (68 Genes)

Skin cancer (11 Genes)

Smith-Lemli-Opitz syndrome and its differential diagnosis, incl. Meckel-Gruber syndrome, Noonan syndrome, and Simpson-Golabi-Behmel syndrome and Pallister-Hall syndrome (51 Genes)

Sotos syndrome (3 Genes)

Spastic paraplegia, Hereditary (60 Genes)

Spermatogenic failure (35 Genes)

Spherocytosis (5 Genes)

Spinal muscular atrophy (23 Genes)

Spondylometaphyseal dysplasias and its differential diagnosis ( 22 Genes)

Stargardt disease (12 Genes)

Stickler syndrome (8 Genes)

Surfactant metabolism dysfunction (10 Genes)

Syndromic microcephaly [Seckel syndrome, Meier-Gorlin syndrome, microcephalic dwarfism, lissencephaly and cortical dysplasia, hypomyelinating leukodystrophy, Aicardi-Goutières syndrome, MVA, Feingold syndrome, Cornelia de Lange syndrome, Smith Lemli Op

Thrombocytopenia (42 Genes)

Thrombophilia (33 Genes)

Thyroid hormone resistance and congenital nongoitrous hypothyroidism (6 Genes)

Trichothiodystrophy (6 Genes)

Weill-Marchesani and Weill-Marchesani-like syndrome (4 Genes)

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.