Test Directory

Noonan, LEOPARD, Costello and CFC syndromes, expanded (22 Genes)

Obesity (Sever Early-Onset) (16 Genes)

Obesity, syndromic and nonsyndromic (30 Genes)

Optic atrophy (16 Genes)

Osteogenesis imperfecta (26 Genes)

Osteopetrosis (9 Genes)

Ovarian dysgenesis (7 Genes)

Overgrowth syndromes (25 Genes)

Pancreatic cancer (14 Genes)

Pancreatitis (6 Genes)

Panhypopituitarism (9 Genes)

Parkinsons disease (35 Genes)

Periodic fever syndrome (8 Genes)

Periodic paralysis, hyperkalemic, hypokalemic, thyrotoxic, and Andersen-Tawil syndrome (5 Genes)

Perrault syndrome (6 Genes)

Polycystic kidney disease and its differential diagnosis, classic (10 Genes)

The classic differential diagnosis of PKD involves about 10 genes beyond PKD1/PKD2, including PKHD1, HNF1B, NPHP genes, TSC1/2, and VHL. Recognizing these helps distinguish ADPKD from other cystic kidney diseases with overlapping features but different prognoses and management strategies.

Polycystic kidney disease and its differential diagnosis, extended (16 Genes)

PKD is primarily due to PKD1/PKD2/PKHD1, but the extended differential diagnosis includes 13 additional genes (total 16) spanning cystic kidney syndromes, ciliopathies, and tubulointerstitial diseases. Recognizing these helps tailor surveillance and management beyond the kidneys.

Pontocerebellar hypoplasia, classic (9 Genes)

Pontocerebellar hypoplasia, extended (17 Genes)

Porencephaly and schizencephaly (5 Genes)