Test Code: PNL007

Genes: COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, MYH9 (6 genes)

Sample Type: 3 ml peripheral blood in EDTA (purple/pink top) tube

Method: Capture-based target enrichment and Next Generation Sequencing.

Turnaround Time: 3-4 weeks

Courier: Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.

Price: 1600

Description:
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.