Test Directory

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)

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.

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