Test Directory

Pseudoxanthoma elasticum (3 Genes)

Renal Failure Gene Panel- Unexplained (259 Genes)

The Renal Failure Gene Panel - Unexplained, is a broad genetic test that screens for mutations across ~259 genes implicated in diverse kidney disorders. It is particularly valuable for patients with early-onset or unexplained renal failure, offering diagnostic clarity, prognostic insight, and guidance for family counseling.

Renal tubular acidosis (36 Genes)

Retinal dystrophies, nonsyndromic or paucisyndromic, extended (156 Genes)

This extended genetic panel for nonsyndromic and paucisyndromic retinal dystrophies includes 156 genes known to be associated with inherited retinal disorders. It is designed to capture a wide spectrum of pathogenic variants across autosomal dominant, autosomal recessive, and X-linked inheritance patterns. The panel enables comprehensive molecular diagnosis of conditions such as retinitis pigmentosa, cone-rod dystrophy, Leber congenital amaurosis, and other progressive retinal degenerations. By covering both common and rare IRD-associated genes, the panel supports personalized care, facilitates genetic counseling, and informs potential eligibility for emerging gene-targeted therapies.

Retinitis pigmentosa, classic (65 Genes)

Retinitis pigmentosa, extended (82 Genes)

Rett and Rett-like syndrome disorders (11 Genes)

Seckel syndrome (9 Genes)

Severe congenital neutropenia (8 Genes)

Sex Development, Differences (34 Genes)

Short QT Syndrome (SQTS) - 5 Genes

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)