Test Directory

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)

Porphyria spectrum disorders (11 genes)

Premature ovarian failure (19 Genes)

Primary ciliary dyskinesia (50 Genes)

Our Primary Ciliary Dyskinesia (PCD) 50‑gene panel provides a comprehensive molecular diagnostic tool for clinicians managing patients with suspected ciliary dysfunction. This targeted assay interrogates the most relevant genes implicated in PCD, enabling detection of pathogenic variants associated with impaired mucociliary clearance, chronic respiratory infections, and related syndromic features. By combining broad genetic coverage with high analytical sensitivity, the panel supports accurate diagnosis, informs patient management, and facilitates genetic counseling for affected families. Designed to align with current clinical guidelines, it offers clinicians a reliable resource for integrating precision medicine into respiratory and reproductive health care. This next-generation sequencing (NGS) panel examines germline variations in genes linked to these disorders, providing insights that may guide personalised treatment and preventive strategies.

Primary congenital glaucoma and its differential diagnosis (13 Genes)

Primary hemophagocytic lymphohistiocytosis and its differential diagnosis (8 Genes)

Primary hyperoxaluria (3 Genes)

Primary microcephaly (26 Genes)

Primary Ovarian Insufficiency (72 Genes)

AARS2 AR ATM BLM BMP15 BMPR1B BUB1B C14orf39 CHM CLPP CYP17A1 CYP19A1 DACH2 DIAPH2 EIF2B2 EIF2B4 EIF2B5 EIF4ENIF1 ERAL1 FANCA FANCC FANCG FANCM FIGLA FMR1 FOXL2 FOXO4 FSHB FSHR GALT GDF9 GGPS1 HARS2 HFM1 HSD17B4 HSF2BP KHDRBS1 LARS2 LMNA MCM8 MCM9 MSH4 MSH5 NANOS3 NBN NOBOX NOG NR5A1 NUP107 PGRMC1 PMM2 POF1B POLG POLR2C POLR3H POU5F1 PSMC3IP RCBTB1 RECQL4 SGO2 SOHLH1 SOHLH2 STAG3 SYCE1 SYCP2L TWNK WRN YTHDC2 ZSWIM7

Progeroid syndromes (24 Genes)

Progressive external ophthalmoplegia and its differential diagnosis (15 Genes)

Pseudohypoaldosteronism (8 Genes)