Clinical Indications

Evidence-based genetic testing indications across 22 organ systems

Each system profile maps clinical dimensions, red-flag combinations, and exome/genome sequencing criteria to help clinicians identify patients who may benefit from genomic evaluation.

22
Organ Systems
91
Red Flag Combos
107
ES/GS Indications
Strong (20) Moderate (2) Emerging (0)
Auditory/Hearing Strong
39-67%
4 red flag combos 3 ES/GS indications
Cardiovascular Strong
32-67%
4 red flag combos 4 ES/GS indications
Connective Tissue Strong
17-18%
5 red flag combos 5 ES/GS indications
Craniofacial Strong
15-84%
4 red flag combos 5 ES/GS indications
Developmental Strong
27-41%
4 red flag combos 5 ES/GS indications
Endocrine Strong
28-59%
4 red flag combos 3 ES/GS indications
Gastrointestinal Strong
25-64%
4 red flag combos 6 ES/GS indications
Hepatic/Liver Strong
25-60%
4 red flag combos 4 ES/GS indications
Immunologic Strong
15-79%
3 red flag combos 4 ES/GS indications
Hematologic/Lymphatic Strong
15-79%
4 red flag combos 6 ES/GS indications
Metabolic/Biochemical Strong
88-90%
4 red flag combos 5 ES/GS indications
Musculoskeletal Strong
50-89%
4 red flag combos 4 ES/GS indications
Nephrology/Renal Strong
46-81%
4 red flag combos 5 ES/GS indications
Neurological Strong
43-58%
5 red flag combos 5 ES/GS indications
NICU — Rapid Genomic Sequencing Strong
34-59%
5 red flag combos 11 ES/GS indications
Ophthalmic Strong
49-92%
4 red flag combos 5 ES/GS indications
PICU/CICU — Rapid Genomic Sequencing Strong
31-59%
5 red flag combos 10 ES/GS indications
Pulmonary Strong
47-80%
4 red flag combos 3 ES/GS indications
Skeletal Strong
42-69%
4 red flag combos 4 ES/GS indications
Dermatologic Strong
58-95%
4 red flag combos 3 ES/GS indications
Psychiatric/Behavioral Moderate
9-57%
4 red flag combos 2 ES/GS indications
Reproductive Moderate
1.5-60%
4 red flag combos 5 ES/GS indications