Genetic variants analyzed in this panel are closely related to or, potentially, the cause of the major laukodystrophy conditions
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
- More than 30 genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Retinal Dystrophy With Leukodystrophy
- Metachromatic leukodystrophy
- Hypomyelinating leukodystrophy
List of genes analyzed:
ACBD5, AIMP1, AIMP2, ALMS1, ARSA, ARSB, CLDN11, CNP, DEGS1, EIF2B5, EPRS1, ERCC2, GALC, GJC2, HIKESHI, HSPD1, LMNB1, NKX6-2, PLEKHG2, POLR1C, POLR3A, POLR3B, PSAP, PYCR2, RARS1, RNF216, SNAP29, TMEM106B, TMEM63A, TUBB4A, UFM1, VPS11
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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.
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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.
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