Necrotizing panniculitis is a manifestation of alpha-1 antitrypsin deficiency that is detected in 1 in every 1,000 patients with the disease. Although it is a rare manifestation, it should raise suspicion of the entity and may, in itself, be an indication for genetic study.
1 / 5,000 – 1 / 7,000 newborns.
Recommended service when the disease is strongly suspected due to the characteristics of panniculitis and/or vasculitis, as long as the other clinical signs point in the same diagnostic direction.
Service indicated when the suspicion of the disease, based on cutaneous and/or extracutaneous manifestations, is high.
Using Sanger sequencing it is possible to detect the cause in more than 99% of cases.
1) Download & fill out
Please cover as many fields as possible in both documents
2) Sample collection
See sample types in the guidelines
3) Pack the sample
Please pack the sample in a way to prevent leakage
4) Send the sample & the request
Please schedule the delivery for Monday–Friday: 8am – 5pm
5) Result: the report
Via: e-mail and/or through the customer portal
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Turnaround time (TAT): 25 days
Ref. S-202009881
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
