Cutis Laxa Panel
Cutis Laxa Panel
Cutis laxa (CL) is an inherited or acquired connective tissue disorder characterized by wrinkled, redundant, sagging, and inelastic skin associated with developmental and skeletal abnormalities and, in some cases, severe systemic involvement.
The gene mutations underlying Cutis Laxa involve the production of elastic proteins which, forming slender bundles, provide strength and flexibility to the connective tissue. Due to these genetic alterations, the formation, aggregation or functionality of this protein is compromised.
This test is particularly indicated for symptomatic subjects seeking diagnostic confirmation and for family members of an affected subject, in order to evaluate their genetic risk.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- 10 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Cutis Laxa
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Using a simple at home blood sample, we can collect the 100% of your DNA and analyze the genetic sequence in our lab.
The sequence is divided into several parts, amplified, grouped in clusters and then sequenced.
This sequencing process reveals the order of nucleotides that make up the original DNA sample.
We then compare the genome with a generic and globally recognized reference DNA sequence.
Simple Blood Sample Collection
Painless, quick at home sample collection. User friendly device with CE-IVD mark and FDA approval.
Simply follow the packaging instructions and send the sample back using the pre-paid returns label.
Genomic Consultation Service
Would you like to speak with a genetic specialist? Book an individual session.
Our extensive network of geneticists will provide you with specialized genetic counseling on the topics that are most relevant for you such as diet and nutrition, fitness, injuries and many more.
Check out the full range of our additional reports, available upon completion of the Genome Test.