What are Genetic Skin Disorders?

The skin is an organ like any other.  Genetic skin disorders are a group of skin diseases where the underlying cause may be genetic.  Skin problems may be minor or extremely complex and may impact not only the patient but their family.

Who Should get ai-Genetic Skin Disease Testing?

Our ai-driven genetic skin disease panel is use to diagnose individuals and family members with a variety of genetic skin diseases.  These include:

• Albinism
• Basal Cell Nevus Syndrome
• Chediak-Higashi Syndrome
• Congenital ichthyosis
• Cutis laxa
• Ectodermal dysplasia
• Epidermolysis bullosa
• Griscelli Syndrome
• Hermasky-Pudlaki syndrome
• Ichthyosis
• Hypotrichosis
• Neurofibromatosis
• Tuberous Sclerosis
• Waardenburg Syndrome
• Xeroderma pigmentosum

NGS including CNV Analysis with > 160 genes covered

We obtain your medical records to better establish the phenotype (the disease manifestations).  Unlike other labs that use a limited phenotype, having more robust clinical data is key to our bioinformatic pipeline.  We use an ai-driven bioinformatics pipeline.

• We can classify variants based on prioritization and association with phenotypes.
• Variants are investigated across 50 + biomedical data sources including a deep-dive into the medical literature to establish novel disease associations.
• Access to over 750000 individual genetic bio-database allows for better variant to disease association identification.
• ACMG / AMP Variant Implementation Guidelines – The American College of Medical Genetics and Genomics and the Association for Molecular Pathology established criteria to for variant interpretation.
• Context classification of inheritance models
• Variant Frequency, Clinical Significance and Damage effect predictions considered in report analysis.
• In-Silico predictive algorithms to determine the effect of sequence variants.

Sample Type

• Buccal Swab

• Whole Blood (EDTA or Lavender Tube)

Turn Around Time

Approximately 4 weeks (30 Days)

Features

• ai Driven bioinformatics pipeline analysis of variants
• Depth of coverage > 100X
• 8000 disease associated genes
• 99% of clinically relevant variants
• Specificity >99.9% for all reported variants

Shipping

A test kit can be shipped to your home within 1-2 business days

Insurance Billing

1. We require a Physicians Order
2. We will require pre-authorization for Genetic Testing.  We can assist in this process
3. A Medicare Advance Beneficiary Notice Form may be required for Medicare patients

Informed Consent

Informed Consent for Genetic Testing is Required.  See our Forms Page

• contact us via phone or email
• Contact Us Form