Genetic Diagnosis (Clinical Exome)

Descripción

Whole exome sequencing (>20,000 genes) for genetic disease diagnosis.

Includes:

• Sample collection kit (shipping included)
• DNA extraction + quality control
• WES 100x+ sequencing
• Bioinformatics analysis with ACMG/AMP classification
• Detailed clinical report with pathogenic and likely pathogenic variants
• Basic genetic counseling

Requirements:

Medical prescription required. Indicated for suspected Mendelian genetic disease.

Turnaround:

3-4 weeks from sample receipt.