CHARGE syndrome. Sequencing of the CHD7 gene by Sanger [1 gene]

Patients with clinical suspicion of CHARGE syndrome.

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Steps to follow
Steps to follow
Click here to see the Guidelines for the collection and transport of biological samples

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

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CHARGE syndrome. Sequencing of the CHD7 gene by Sanger

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Technique: Sanger

Turnaround time (TAT): 25 days

Ref. S-202009940

CHARGE syndrome. Sequencing of the CHD7 gene by Sanger: View panel
  • CHD7

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.