Genetic and Genomic Testing

Hereditary Cardio and Pulmonology Disorders

Hereditary Cardio Disorders

Hereditary cardiac genetic testing evaluates inherited heart conditions associated with cardiomyopathies, arrhythmias, lipid disorders, and sudden cardiac death. These conditions often present with variable symptoms and may go undiagnosed without genetic evaluation.

Testing includes analysis of genes associated with:

Hypertrophic and dilated cardiomyopathy
Inherited arrhythmia syndromes including Long QT syndrome and Brugada syndrome
Familial hypercholesterolemia
Congenital and inherited cardiovascular disease

Suitable Candidates:

Individuals with unexplained cardiomyopathy or arrhythmias
Patients with early onset cardiovascular disease
Individuals with a family history of sudden cardiac death
First degree relatives of patients with known pathogenic variants

Hereditary Pulmonology Disorders

Genetic lung disorder testing identifies inherited pulmonary diseases affecting airway function, lung structure, and oxygen exchange.

Testing includes analysis of genes associated with:

Alpha 1 antitrypsin deficiency
Cystic fibrosis
Familial pulmonary fibrosis
Hereditary pulmonary hypertension
Primary ciliary dyskinesia

Suitable Candidates:

Patients with unexplained chronic lung disease
Individuals with early onset or familial pulmonary conditions
Patients with recurrent respiratory infections of unknown cause
Family members of affected individuals

Cancer Genetic Testing

BRCA and Multigene Cancer Panels

Cancer genetic testing evaluates inherited cancer susceptibility using NGS based multigene panels to inform surveillance, prevention, and treatment strategies.

Testing includes:

BRCA1 and BRCA2 genetic testing
Hereditary breast and ovarian cancer panels
Colorectal cancer genetic testing
Renal and thyroid cancer panels

Suitable Candidates:

Individuals with early onset cancer
Patients with multiple primary cancers
Individuals with strong family history of cancer
Patients meeting NCCN hereditary cancer testing criteria

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Neurodegenerative Disorders

Neurogenetic testing evaluates inherited neurological and neurodegenerative conditions affecting cognition, movement, muscle strength, and nervous system development.

Testing supports diagnosis of:

Epilepsy and seizure disorders
Neuromuscular and motor neuron diseases
Neurodevelopmental disorders
Rare neurodegenerative syndromes

Suitable Candidates:

Patients with unexplained seizures or neurological decline
Individuals with developmental delay or intellectual disability
Patients with progressive neuromuscular symptoms
Families with inherited neurological conditions

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Immunodeficiency Disorders

Immunodeficiency genetic testing evaluates inherited disorders of immune dysfunction leading to recurrent infections or immune dysregulation.

Testing supports diagnosis of:

Primary immunodeficiency disorders
Severe combined immunodeficiency
Common variable immunodeficiency
Wiskott Aldrich syndrome

Suitable Candidates:

Patients with recurrent or severe infections
Individuals with early onset autoimmune disease
Children with failure to thrive and immune abnormalities
Family members of patients with known immune disorders

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Diabetes MODY Testing

MODY genetic testing evaluates monogenic diabetes often misclassified as Type 1 or Type 2 diabetes.

Testing supports diagnosis of:

MODY 1, 2, 3, and 5 gene analysis

Suitable Candidates:

Individuals diagnosed with diabetes at a young age
Patients with non insulin dependent diabetes and family history
Individuals with atypical diabetes presentation
Families with autosomal dominant diabetes patterns

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Hereditary Eye Disorders

Genetic eye disorder testing evaluates inherited conditions affecting vision and ocular development.

Testing supports diagnosis of:

Leber hereditary optic neuropathy
Inherited optic neuropathies
Genetic vision loss disorders
Hereditary amblyopia

Suitable Candidates:

Patients with unexplained vision loss
Individuals with early onset optic neuropathy
Families with inherited eye disorders
Patients with progressive visual impairment

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Hereditary Thyroid Disorders

Hereditary thyroid genetic testing evaluates inherited thyroid dysfunction and cancer risk.

Testing supports diagnosis of:

Hashimoto thyroid disease genetic risk
Graves disease genetic evaluation
Papillary and medullary thyroid cancer testing

Suitable Candidates:

Patients with familial thyroid disease
Individuals with early onset thyroid dysfunction
Patients with family history of thyroid cancer
Individuals meeting endocrine genetic testing criteria

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Hereditary Renal Disorders

Renal genetic testing evaluates inherited kidney disease and genetic causes of renal dysfunction.

Testing supports diagnosis of:

Polycystic kidney disease
Renal tubular acidosis
Congenital renal anomalies
Hereditary renal cancer syndromes

Suitable Candidates:

Patients with unexplained chronic kidney disease
Individuals with congenital kidney abnormalities
Families with inherited renal disorders
Patients with early onset renal failure

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Hereditary ENT Disorders

ENT genetic testing evaluates inherited disorders affecting hearing, balance, and airway function.

Testing supports diagnosis of:

Hereditary hearing loss
Genetic balance disorders
Meniere disease evaluation
Congenital ENT disorders

Suitable Candidates:

Patients with congenital or early onset hearing loss
Individuals with unexplained balance disorders
Families with inherited ENT conditions
Pediatric patients with developmental auditory issues

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Hereditary Metabolic Disorders

Hereditary metabolic disorder testing evaluates genetic conditions affecting enzyme function and metabolic pathways.

Testing supports diagnosis of:

Inherited metabolic disorders
Porphyria
Dysautonomia
Metabolic acidosis conditions

Suitable Candidates:

Patients with unexplained metabolic abnormalities
Pediatric patients with developmental delay or failure to thrive
Families with known metabolic disease history

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Carrier Screening Panels

Carrier screening identifies individuals who carry inherited genetic conditions that may affect offspring.

Testing supports diagnosis of:

Expanded carrier screening
Prenatal carrier screening
Reproductive genetic carrier panels

Suitable Candidates:

Individuals planning pregnancy
Couples undergoing fertility treatment
Patients with family history of genetic disease
Prenatal and preconception patients

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Pharmacogenomics

Pharmacogenomic testing evaluates genetic variants that influence medication metabolism, efficacy, and adverse drug reaction risk.

Testing supports diagnosis of:

CYP2C19 pharmacogenomics
DPYD pharmacogenomics
Dysautonomia
Drug gene interaction analysis

Suitable Candidates:

Patients with adverse drug reactions
Individuals with poor medication response
Patients on long term or high risk medications
Providers seeking personalized medication guidance

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Targeted Gene Panels

Targeted gene panel testing analyzes disease specific gene sets for efficient and focused evaluation.

Panels include:

Hereditary cancer panels
Cardiac gene panels
Epilepsy gene panels
Pharmacogenomic panels

Suitable Candidates:

Patients with suspected single system disorders
Individuals requiring focused diagnostic testing
Patients where rapid results are clinically necessary

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Whole Exome Sequencing

Whole exome sequencing evaluates all protein coding regions of the genome for complex or undiagnosed conditions.

Testing supports diagnosis of:

Diagnostic exome sequencing
Trio whole exome sequencing
Rare disease analysis

Suitable Candidates:

Patients with undiagnosed genetic conditions
Individuals with multiple unexplained symptoms
Pediatric patients with complex presentations
Families with unclear inheritance patterns

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Mitochondrial Genetic Mitochondrial Genetic

Mitochondrial genetic testing evaluates inherited mitochondrial disorders affecting energy metabolism.

Panels include:

Mitochondrial DNA sequencing
mtDNA mutation analysis
Epilepsy gene panels
mtDNA mutation analysis

Suitable Candidates:

Patients with multisystem disease
Individuals with unexplained neuromuscular symptoms
Pediatric patients with developmental regression
Families with suspected maternal inheritance

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