Hereditary Spherocytosis Report

€29.00

Hereditary Spherocytosis

Hereditary Spherocytosis is an inherited hematological disorder (a type of hemolytic anemia) characterized by the presence of red blood cells that are spherical in shape rather than like a disk. The five main genes associated with the onset of this pathology code for the proteins that make up the membrane of the red blood cells thanks to which, in normal conditions, these cells deform flexibly when passing through the narrow capillaries. The mutations they undergo, changing the cell shape from a flattened disk to a spherical one, deprive the red blood cells of this physiological deformability, directing them to early destruction. The ANK1 gene, encoding ankyrin, is responsible for approximately half of cases of hereditary spherocytosis.

5 genes analyzed


It is recommended if:

This test is indicated for those with a suspected diagnosis of HS, given by typical clinical features, abnormal laboratory test results (peripheral blood spherocytosis, MCHC increase, reticulocyte increase) or a positive family history.


List of main conditions:

  • Spherocytosis, type 1
  • Spherocytosis, type 5
  • Elliptocytosis-3
  • Available in less than 24 hours
  • Based on Whole Genome Sequencing
  • Investigates SNP and Indel mutations up to 150 bp

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.

How can my doctor use the results?

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. 

How will I receive my reports?

The first thing to do when you receive your kit is to register it on your Genome Manager account. Dante's proprietary platform will keep you up-to-date on all stages of your genetic journey, providing you with the real-time status of your sample and where you can download your free report and raw data* at any time.

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

How can I add other reports to my account?

At any time, you can log into your Genome Manager account and visit the Shop section. Here you will find a catalog with more than 150 additional reports dedicated to all areas of health. In addition, by subscribing to our newsletter you can always see new reports and panel updates.

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