Are you a healthcare professional?
This content is intended exclusively for healthcare professionals.
The content is for informational purposes only and is not intended for the general public.
Autosomal recessive ichthyosis [22 genes]
Request study
Informed consent
Steps to follow
Ask for information
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
Solicita información de
Autosomal recessive ichthyosis
"*" indicates required fields
Technique: Exome
Turnaround time (TAT): 25 days
Ref. S-202515959
Updated (dd/mm/yy): 04/11/2025
Autosomal recessive ichthyosis: View panel
- ABCA12
- ABHD5
- ALDH3A2
- ALOX12B
- ALOXE3
- CERS3
- CLDN1
- CSTA
- CYP4F22
- KDSR
- LIPN
- NIPAL4
- PNPLA1
- SDR9C7
- SERPINB8
- SLC27A4
- SPINK5
- ST14
- STS
- SULT2B1
- TGM1
- VPS33B
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.
