Our NGS Panels

 

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

 

Sample Collection & Process

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

 

Kit Instructions

Included in Each Kit:

• Collection tube or saliva kit

• Pre-labeled specimen ID

• Biohazard transport bag

• Test requisition form

• Prepaid return shipping label

 

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.

 

FAQs

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.

​

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.

​

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