Over 6,000 human diseases can be classified as monogenic/Mendelian disorders, and these conditions affect millions of people worldwide. Mendelian disorders also significantly contribute to morbidity and mortality of hospital-based pediatric cases. In fact, childhood Mendelian disorders account for approximately half of blindness, deafness, severe mental retardation cases, and 40-50% of childhood deaths.
Clinical tests based on whole exome sequencing have been demonstrated to be effective in identifying genetic causes of monogenic diseases. This complex diagnostic process allows the examination of approximately 22,000 genes in the human exome, to improve the yield of diagnosis.
The Rainbow Whole Exome Sequencing test is designed for pediatric patients. These are whole exome sequencing tests, targeting a patient with clinical findings that suggest an underlying genetic etiology.
Purchase Remarks: Doctors to conduct health consultation, physical examination and result report interpretation.
Pedi 1000™ Whole Exome/Genome Sequencing Test
- Availability: In Stock