Metabolic Genetic Testing Market Outlook: Market Analysis

Sample Type Segment Analysis

Based on the sample type, blood segment is projected to garner the largest share of 60.4% during the forecast timeline. Blood collection is relatively simple, minimally invasive, and well validated, which positions the subtype as the dominant position in this sector. For instance, in June 2025, Myriad Genetics announced the launch of early access to its FirstGene Multiple Prenatal Screen, which is a single blood test offering prenatal genetic risk assessment without needing paternal DNA. It detects chromosomal aneuploidies, 22q11.2 deletion, and 10 severe recessive conditions using fetal cell-free DNA.

Technology Segment Analysis

In terms of technology, the next-generation sequencing segment is expected to capture a significant share of 45.8% by the end of 2035. The high throughput, broader coverage, falling costs per base, and ability to detect rate variants are the key factors behind the segment’s leadership. In May 2025 Innovative Genomics Institute reported that its team, led along with the Children’s Hospital of Philadelphia, developed the first personalized CRISPR therapy for a rare metabolic disease called CPS1 deficiency and delivered it to an infant patient in just six months.

Test type Segment Analysis

Based on the test type targeted gene panels segment is likely to capture a considerable share of 30.3% during the analyzed timeframe. These panels are cost-effective relative to whole-genome sequencing, especially when the disorder is among known metabolic gene sets. They reduce incidental findings, have faster turnaround, and are most established in terms of payer reimbursements. Furthermore, most of the prominent studies have evidenced that gene panels will be widely adopted in genetic testing, thereby fostering a favorable business environment.

Our in-depth analysis of the global market includes the following segments: