Leveraging our Targeted Genomic Region Sequencing (tSEQ) to Understand Rare Disease Pathogenesis

Abnormal Mineralization Marker panel includes - 94 genes - To cover disorders of osteogenesis imperfecta, osteopetrosis, high and low bone density disorders, and hypophosphatasia

115 genes which directs the different types of seizure syndromes like epilepsy partial, epilepsy generalized, epilepsy absence, myoclonic epilepsy, hypomagnesemia

covers the reported 93 genes which directs the ASD syndromes

SYNX obesity panel covers 127 genes reported for patients with abnormalities in glucose metabolism, familial hypercholesterolemia, insulin resistance, familial hyperinsulinism

SYNX pancreatitis panel reported to screen 29 genes associated with chronic pancreatitis and differential diagnosis of pancreatic cancer

Covers 12 inherited genes reported to cause CAH for abnormal production of steroid hormones (cortisol or aldosterone) and also 21-hydroxylase encoding gene (CYP21A2)

31 gene panel charcaterized to understand the defects of Vitamin B12 and folate metabolism as immuno-disorder

Includes 37 non-nuclear mitochondrial genes characterized to cause mitochondrail disorders

Includes 28 genes responsible as hereditary cause for breast cancer risk prognosis

2 gene panel (BRCA1 and BRCA2) varients reported to cause oncology pattern which comprehensive range of cancer prognosis, diagnosis, treatment selection, and monitoring

To understand the genetic cause, we carefully curated all reported gene varients to develop our comprehensive targeted SYNX Marker panels with AI-driven insights for the following rare disease-centric solution