Home › Test Catalogue › Genetic Testing
Next-Generation Sequencing
Twelve genomic panels, analyzed under our own roof.
Sequencing, bioinformatics, and secondary analysis are performed by Prime Path staff in Denver. No specimen, and no genomic data, is sent to a third party. Every panel runs from a single non-invasive buccal swab.
Oncology
Hereditary Cancer Genomics
Between 10% and 20% of cancers begin with a mutation the patient inherited, long before the first symptom.
Our targeted Cancer Genomics panel reads the germline drivers behind hereditary breast, ovarian, colorectal, prostate, and pancreatic cancer, and returns a result a clinician can act on — earlier surveillance, risk-reducing surgery, or eligibility for a targeted therapy. BRCA1 and BRCA2 sit alongside TP53, PTEN, APC, and MSH2, the anchor for Lynch syndrome, in a panel curated around the presentations oncology actually sees. A positive result rarely stops with the patient. It converts a family history into a testable hypothesis for every first-degree relative, at a fraction of the cost of the original test. Consider it for cancer diagnosed before 50, multiple affected relatives, rare presentations such as male breast cancer, or any pedigree that has never been explained.
Precision Prescribing
Pharmacogenomics (PGx)
Right drug. Right dose. Right patient. Once in a lifetime.
A patient’s metabolizer genotype does not change. Read it once, and every prescribing decision that follows — for the rest of their life — is informed rather than empirical. Our pharmacogenomics panel profiles the enzymes that govern the drugs physicians actually prescribe: CYP2D6 for opioids, antipsychotics, SSRIs, and stimulants; CYP2C19 for clopidogrel and proton-pump inhibitors; CYP2C9 for warfarin and NSAIDs; DPYD before fluoropyrimidine chemotherapy; TPMT before thiopurines; SLCO1B1 for statin-associated myopathy. It is most valuable where trial-and-error is most costly: polypharmacy, a documented adverse drug reaction, psychiatry, cardiology, oncology, and chronic pain. The result is not a prediction of efficacy. It is a map of the metabolic machinery, delivered before the first dose rather than after the first failure.
Endocrinology
Diabetes Etiology & Drug Response
Not all diabetes is type 1 or type 2. As many as eight in ten monogenic cases are misclassified.
This panel does three jobs from a single buccal swab. It reclassifies the diabetes by reading its genetic cause: HNF1A and HNF4A variants often respond to low-dose sulfonylureas and can move a patient off insulin entirely, while GCK produces mild, stable hyperglycemia that frequently needs no treatment at all. It traces maternally inherited diabetes and deafness — the mitochondrial m.3243A>G variant, roughly 1% of all diabetes, routinely labelled type 2 — and reflexes to whole mitochondrial genome analysis when the targeted test is negative. And it profiles the pharmacogenomics that govern drug safety in patients who are almost never on a single medication. Etiology and drug response, read together, once. Think of it when diabetes presents before 35 without type 1 features, or when hearing loss travels down the maternal line.
Cardiology & Electrophysiology
Cardiogenetics — Hereditary Cardiovascular Disorders
The heart gives no warning. The genes do.
In inherited cardiac disease, sudden cardiac death is frequently the presenting sign. No chest pain, no gradual decline, no second chance. A molecular diagnosis moves the timeline forward: it identifies the at-risk heart before the arrhythmia, and converts a frightening family history into a surveillance interval and a treatment threshold. The panel reads both the structural and the electrical drivers — MYH7 and MYBPC3 for hypertrophic and dilated cardiomyopathy, LMNA for dilated cardiomyopathy with conduction disease and a markedly higher arrhythmic burden, KCNQ1, KCNH2, and SCN5A for long QT and Brugada, and PKP2 and DSP for arrhythmogenic right ventricular cardiomyopathy. Genotype informs beta-blockade, activity restriction, device timing, and drug avoidance. One positive result opens single-site, low-cost cascade testing across every first-degree relative.
Neurology
Hereditary Neurological Disorders
Go beyond the diagnosis. Uncover the genetic root.
Neurological disease is often recognised long before it is understood. This panel reads the inherited causes across the spectrum a neurology clinic sees: PSEN1 and PSEN2 in familial Alzheimer disease; SCN1A, SCN2A, and GABRG2 in the genetic epilepsy syndromes; LRRK2 in Parkinson disease; ATXN1, CACNA1A, and FXN in the hereditary ataxias; HTT in Huntington disease; and PMP22, GJB1, and MPZ in Charcot-Marie-Tooth. A molecular result ends the diagnostic odyssey, sharpens prognosis, and gives families a basis for reproductive and cascade decisions. It is indicated where symptoms begin early or atypically, where a family history is suggestive, or where a specific syndrome must be confirmed before therapy is committed. Presymptomatic testing for Huntington disease is performed under a structured counselling protocol.
Pulmonology
Hereditary Pulmonary Disorders
Not every breathless patient is a smoker.
Inherited lung disease hides in plain sight. Alpha-1 antitrypsin deficiency is written off as ordinary COPD. Familial pulmonary fibrosis is labelled idiopathic. Surfactant disorders in children are chased for years. Because these conditions are so easily attributed to smoking, age, or bad luck, the genetic cause is missed until the damage is irreversible. This panel spans the airway to the alveolus: SERPINA1 for alpha-1 antitrypsin deficiency, one of the most common and most underdiagnosed inherited conditions and one of the few with disease-specific therapy; CFTR for cystic fibrosis and CFTR-related disorders; SFTPC, SFTPB, and ABCA3 for surfactant dysfunction; TERT, TERC, and RTEL1 for the short-telomere syndromes behind familial fibrosis; and BMPR2 for heritable pulmonary arterial hypertension. Results redirect therapy, transplant planning, and family screening.
Nephrology
Hereditary Renal Disorders
A meaningful share of chronic kidney disease labelled “unexplained” is, in fact, monogenic.
Naming the gene does more than end the diagnostic search. In genetic FSGS, a molecular result can spare a patient months of ineffective, toxic immunosuppression. Before transplant, it clarifies inheritance so a living-related donor can be evaluated safely, and it sets realistic expectations for progression and recurrence. The panel runs from cysts to glomeruli: PKD1 and PKD2 for autosomal dominant polycystic kidney disease, PKHD1 for the recessive form, COL4A3, COL4A4, and COL4A5 for Alport syndrome and thin basement membrane nephropathy, NPHS1 and NPHS2 for steroid-resistant nephrotic syndrome, and WT1 for Denys-Drash and Frasier syndromes. Think genetic when CKD has no clear cause in a young patient, when hematuria or proteinuria persists, or when a potential living donor shares the family history.
Endocrinology
Hereditary Thyroid Disorders
One gland. Two genetic stories.
The thyroid fails in two very different inherited ways, and this panel covers both. In children, defects in gland development and hormone synthesis produce congenital hypothyroidism and dyshormonogenesis — PAX8 in thyroid dysgenesis, TSHR and DUOX2 in impaired hormone synthesis, TG in the thyroglobulin defects behind congenital goitre. In adults and at-risk families, germline RET variants drive medullary thyroid carcinoma and multiple endocrine neoplasia type 2. That second arm is the one that changes lives. In MEN2, medullary carcinoma is not a possibility to monitor; it is a near-certainty to prevent. Identifying a RET carrier before malignancy develops allows risk-reducing thyroidectomy to be timed to the specific variant’s aggressiveness, turning an inherited cancer syndrome into a scheduled, manageable intervention. One germline result protects the whole pedigree.
Metabolic Medicine
Hereditary Metabolic Disorders
Inborn errors of metabolism reward one thing above all: finding them early.
This targeted NGS panel screens the genes behind inherited metabolic disease, where a molecular answer often translates directly into a dietary or pharmacological intervention that changes the natural history. Coverage includes HEXA in Tay-Sachs disease, GALT in classic galactosemia, HFE in hereditary hemochromatosis, GBA in Gaucher disease, and ATP7B in Wilson disease — conditions where treatment exists and delay is measured in irreversible organ damage. It is indicated for infants and newborns with unexplained metabolic symptoms, patients with suspected enzyme deficiencies, families with a known history, and anyone for whom a targeted dietary or medical intervention would follow a confirmed diagnosis. A negative result is informative too: it redirects the workup rather than prolonging it.
Immunology
Inherited Immunity Disorders
Recurrent, severe, or unusual infection is the clue. The gene is the answer.
Inborn errors of immunity are among the most under-diagnosed conditions in medicine. Patients wait years, across multiple specialists, before anyone names the defect. This panel spans the full clinical range — common variable immunodeficiency, the agammaglobulinemias and hyper-IgM syndromes, chronic granulomatous disease, Wiskott-Aldrich and DiGeorge syndromes, severe combined immunodeficiency, autoimmune lymphoproliferative syndrome, the autoimmune polyendocrinopathies, and activated PI3-kinase delta syndrome. The defect dictates the therapy: immunoglobulin replacement, targeted prophylaxis, stem-cell transplant, or a precision drug. SCID is a paediatric emergency, and early transplant transforms survival; suspected cases are expedited. Suspect an immune defect when a patient needs intravenous antibiotics, when infections recur the moment treatment stops, or when there is a family history. Variants are classified to ACMG/AMP criteria.
Otolaryngology & Audiology
Hereditary Hearing Loss
When the audiogram tells you how much, the gene tells you why.
About half of childhood hearing loss is genetic, yet the audiogram measures severity and never cause. This panel reads the molecular basis of sensorineural hearing loss across more than 120 genes, and the result tells you whether the loss will progress, how a cochlear implant is likely to perform, and which organ to watch next. GJB2 remains the single most common cause. KCNQ1 and KCNE1 pair congenital deafness with long QT and a genuine risk of sudden cardiac death — a finding that turns an audiology visit into a cardiology referral. SLC26A4 flags thyroid and inner-ear disease; USH2A predicts future vision loss. And OTOF is now a treatment target: in April 2026 the FDA approved the first gene therapy for OTOF-related deafness. The window is early childhood.
Ophthalmology
Inherited Retinal & Optic Disorders
One sample. The whole eye. The genotype is the treatment plan.
Inherited eye disease overlaps so heavily on examination that imaging alone often cannot name it. Two patients with an identical fundus can face entirely different futures. A molecular diagnosis defines the disease, fixes the inheritance pattern, and increasingly determines the therapy. Coverage runs from retina and macula through glaucoma, cataract, cornea, and the optic nerve, and can be ordered as a targeted sub-panel or comprehensively when the phenotype is ambiguous. A confirmed RPE65 result identifies candidates for voretigene neparvovec, an approved gene therapy that restores functional vision in Leber congenital amaurosis; RPGR-targeted therapy is in advanced trials. No genotype, no eligibility. And these therapies work best while photoreceptors survive, which makes the timing of the test part of the treatment. Test at first suspicion.
Bioinformatics
The pipeline is ours.
Most laboratories of our size outsource secondary analysis. We do not. Alignment, variant calling, annotation, and interpretation run on a Prime Path pipeline, maintained by Prime Path staff, under CLIA #06D2341973. Genomic data is never transmitted to a third-party analysis vendor.
Before you collect
Every panel on this page runs from a DNAGenotek OCD-100 buccal swab, stable for 90 days from collection. No blood draw is required. Our Specimen Stability Guidelines list the labelling and packaging rules a specimen must meet to be accepted — specimens outside these criteria are rejected on receipt.
Discuss a case before you order.
Our molecular pathologists help with panel selection and result interpretation.