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Long Genetics

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Conditions We Test

Genetic evaluation across 20 organ systems, supported by 80+ peer-reviewed references.

Strong Evidence Published diagnostic yield data, 3+ references, defined ES/GS indications
Moderate Evidence Published data but narrower evidence base or highly variable yields

Tier 1: Strong Evidence

18 organ systems with robust diagnostic yield data and defined testing indications.

Dermatologic

Strong
58–95% diagnostic yield
3 indications
Epidermolysis bullosa, genodermatoses, mosaic skin disorders

Metabolic / IEM

Strong
88–90% diagnostic yield
5 indications
Inborn errors of metabolism, newborn screening confirmation, leukodystrophies

Musculoskeletal

Strong
50–89% diagnostic yield
4 indications
Muscular dystrophies, myopathies, connective tissue disorders, arthrogryposis

Ophthalmic

Strong
49–92% diagnostic yield
5 indications
Inherited retinal diseases, congenital cataracts, optic atrophy

Pulmonary

Strong
47–80% diagnostic yield
3 indications
Primary ciliary dyskinesia, pulmonary fibrosis, pulmonary arterial hypertension

Nephrology

Strong
46–81% diagnostic yield
5 indications
Alport syndrome, CAKUT, cystic kidney disease, tubulopathies, nephrolithiasis

Neurological

Strong
43–58% diagnostic yield
5 indications
Epilepsy, neuropathy, ataxia, leukodystrophy, movement disorders

Skeletal

Strong
42–69% diagnostic yield
4 indications
Skeletal dysplasias, craniosynostosis, osteogenesis imperfecta, short stature

Auditory / Hearing

Strong
39–67% diagnostic yield
3 indications
Sensorineural hearing loss, syndromic deafness

Cardiovascular

Strong
32–67% diagnostic yield
4 indications
Cardiomyopathies, arrhythmias, aortopathies, familial hypercholesterolemia

Endocrine

Strong
28–59% diagnostic yield
3 indications
Disorders of sex development, congenital adrenal hyperplasia, monogenic diabetes

Developmental

Strong
27–41% diagnostic yield
5 indications
Intellectual disability, autism spectrum, developmental delay, congenital anomalies

Gastrointestinal

Strong
25–64% diagnostic yield
6 indications
Monogenic IBD, polyposis syndromes, pancreatitis, motility disorders

Hepatic

Strong
25–60% diagnostic yield
4 indications
Neonatal cholestasis, intrahepatic cholestasis, genetic liver diseases

Immunologic

Strong
15–79% diagnostic yield
4 indications
Primary immunodeficiencies, inborn errors of immunity

Connective Tissue

Strong
17–18% diagnostic yield
5 indications
Hereditary aortopathies, Ehlers-Danlos syndromes, Marfan syndrome

Craniofacial

Strong
15–84% diagnostic yield
5 indications
Craniosynostosis, cleft lip/palate, craniofacial syndromes

Lymphatic

Strong
15–79% diagnostic yield
6 indications
Lymphatic malformations, hereditary lymphedema

Tier 2: Moderate Evidence

Systems with published data but narrower evidence base or highly variable yields.

Psychiatric / Behavioral

Moderate
9–57% diagnostic yield
Highest yield in consanguineous populations; neurodevelopmental disorder overlap with Developmental category

Reproductive

Moderate
1.5–60% diagnostic yield
DSD yield high (60%); idiopathic male infertility yield low (1.5%); highly condition-dependent

Critical Care Settings

Rapid genomic sequencing in intensive care delivers the highest-impact diagnoses, cutting across multiple organ systems.

NICU

Neonatal Intensive Care

34–59% diagnostic yield
  • 7–9 day median turnaround time
  • 25% reduction in length of stay
  • Cost-effective (ICER <€9,000)
  • Diagnosis within the admission — before the odyssey begins
PICU / CICU

Pediatric & Cardiac Intensive Care

31–59% diagnostic yield
  • 3-day median turnaround time
  • 80% management change rate following diagnosis
  • Time to diagnosis halved with first-line sequencing
  • 2.4-fold increase in diagnostic rate when used as first-line test
20
Organ Systems
~53%
Avg Diagnostic Yield
80+
Peer-Reviewed References
22
Clinical Indications

Understanding Diagnostic Yield

Diagnostic yield is the percentage of patients tested who receive a definitive molecular diagnosis. A yield of 53% means that for roughly every two patients tested, one receives a clear genetic answer.

Yield varies by organ system and clinical presentation. Higher yields are seen in conditions with well-characterized genetic causes (e.g., metabolic disorders, retinal diseases). Lower yields may reflect genetic heterogeneity, environmental contributions, or the current limits of testing technology.

Even when testing does not identify a causative variant, it provides valuable information — ruling out specific diagnoses, guiding further workup, and establishing a baseline for future reanalysis as knowledge expands.

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