Cardiopulmonary Panel

Comprehensive genetic testing for inherited cardiovascular and pulmonary disorders, including:

• Cardiomyopathies (dilated, hypertrophic, restrictive)

• Arrhythmia syndromes (e.g., Long QT, Brugada, CPVT)

• Pulmonary hypertension and other hereditary lung diseases

• Genes related to connective tissue disorders affecting the heart and lungs

 

Comprehensive Immunodeficiency Panel

Evaluates genetic variants associated with both primary and secondary immunodeficiency conditions. This panel can help identify:

• Severe Combined Immunodeficiency (SCID)

• Common Variable Immunodeficiency (CVID)

• Chronic granulomatous disease

• Other rare immune system disorders affecting infection resistance and immune regulation

 

Comprehensive Neurology Panel

Covers a broad range of neurological and neuromuscular disorders, including:

• Epilepsy and seizure syndromes

• Ataxias and movement disorders

• Neuropathies and myopathies

• Neurodegenerative diseases with known genetic causes

 

Diabetes Panel

Detects genetic variants linked to various forms of diabetes, including:

• Monogenic diabetes (MODY)

• Neonatal diabetes

• Genetic risk factors for Type 1 and Type 2 diabetes

• Syndromic forms of diabetes associated with other organ involvement

 

Eye Disorders Panel

Targets genes associated with inherited ophthalmologic conditions, such as:

• Retinitis pigmentosa

• Glaucoma

• Macular degeneration

• Corneal dystrophies

• Optic atrophy

 

Hereditary Cancer Gene Panel

Identifies inherited mutations in genes that increase cancer risk, including:

• BRCA1/2 (breast and ovarian cancer)

• Lynch syndrome genes (colon and endometrial cancer)

• Genes linked to pancreatic, prostate, melanoma, and other cancers

• Supports personalized cancer screening and prevention strategies

 

Primary Immunodeficiency Panel

Focused testing for genes associated specifically with primary immune system disorders, including:

• B-cell and T-cell deficiencies

• Phagocyte function defects

• Complement pathway deficiencies

• Immune dysregulation syndromes

 

Thyroid Genetic Panel

Detects variants related to hereditary thyroid disorders, such as:

• Congenital hypothyroidism

• Autoimmune thyroid disease susceptibility

• Thyroid hormone resistance syndromes

• Thyroid cancer predisposition genes

Specimen Types: Blood, saliva, or buccal swab, depending on panel requirements.

Turnaround Time: Typically 2–4 weeks from specimen receipt.

Report Includes:

• Detailed variant analysis

• Pathogenicity classification (ACMG guidelines)

• Clinical interpretation

• Recommendations for follow-up or family testing

Included in Each Kit:

• Collection tube or saliva kit

• Pre-labeled specimen ID

• Biohazard transport bag

• Test requisition form

• Prepaid return shipping label

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Steps:

1. Collect the specimen per kit instructions (blood draw, saliva collection, or cheek swab).

2. Label with patient name, DOB, and date/time of collection.

3. Place in the provided biohazard bag.

4. Complete the requisition form and place it in the pouch.

5. Return via prepaid shipping or arranged courier pickup.

Q: Who should consider NGS testing?
A: Patients with a strong family history of certain diseases, early-onset or unexplained conditions, or those whose symptoms suggest a genetic basis.

 

Q: Is NGS covered by insurance?
A: Many panels are covered with appropriate medical necessity documentation; check with your provider.

 

Q: How accurate are NGS results?
A: Our NGS tests are validated to meet clinical-grade standards, with high analytical sensitivity and specificity.

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Q: Will the results explain my symptoms?
A: NGS can identify genetic contributors to disease, but interpretation should be done with your healthcare provider in the context of your full medical history.

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Q: Can family members be tested?
A: Yes—targeted testing for relatives may be recommended if a pathogenic variant is found.