Chédiak-Higashi Syndrome Report

$34.99

Chédiak-Higashi Syndrome

Chediak-Higashi syndrome, a rare autosomal recessive disorder, manifests as impaired lysis of phagocytized bacteria, resulting in recurrent bacterial respiratory infections, other infections, and oculocutaneous albinism. Neutrophils and various other cells, such as melanocytes and Schwann neural cells, exhibit giant lysosomal granules. Dysfunctional lysosomes fail to merge with phagosomes, leading to abnormal bacterial lysis. This syndrome arises from a mutation in the LYST gene.

1 gene genes analyzed


It is recommended if:

The Chédiak-Higashi Syndrome report is suitable for individuals exhibiting clinical signs, symptoms, or familial suspicion of Chediak-Higashi Syndrome.


List of main conditions:

  • Chédiak-Higashi Syndrome
  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • Investigates SNP and Indel mutations up to 150 bp

Simple workflow

*To generate this report, a sequencing test is mandatory. If you have not yet acquired a sequencing test, kindly make the purchase at this link: Dante Genome Test now!

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FAQs

How will my data be used?

Your data is yours. Which is why we have developed proprietary software linked to a dedicated platform, the Genome Manager, to provide you with unique access to your data whenever you want, wherever you are.

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You will be provided with a digital version of the raw data and reports. Thanks to these in-depth tools, you will be able to share your preferred information with your geneticist and/or doctor to indicate and plan the healthiest course for you. 

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*Raw data will be available free of charge for the first 30 days after release.

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