Rare Disease Diagnosis

Scientific Description

Utilizes clinical-grade next-generation sequencing (NGS) combined with population-specific polygenic risk scores (PRS) to accurately diagnose elusive genetic disorders. Our newborn screening panels employ tandem mass spectrometry to detect inborn errors of metabolism (IEMs), such as phenylketonuria (PKU) and MCAD deficiency, within days of birth. For complex cases, our comprehensive rare disease panels screen for ~5,000 monogenic disorders, incorporating Saudi-specific variant databases to improve diagnostic yield. This approach reduces the diagnostic odyssey from years to weeks, enabling early, targeted interventions for conditions like spinal muscular atrophy (SMN1/SMN2) and lysosomal storage disorders.

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Happy Patients

What Our Clients Say About Us

"Frankly speaking, the experience was the first time I dealt with them. They were very quick to respond. They made an appointment for me at home on their appointment, and there was no delay. The result was not delayed exactly as they said, 7 days. God willing, I wish them success, Lord."

Wejdan Sunbol

"I had a NIPT basic test last week and the results came out in less than a week. Their treatment in the laboratory was very elegant and the staff were professional. They were all cooperative and ready to answer all questions."

Saba Altalhi

"I had a genetic test done by them, one of the best, finest, and cleanest clinics. They were very cooperative with many questions I asked, but they were answering and appreciative. May God make them happy. The results came out before the due date. Thank you for all this kindness ."

Doua Alghamdi