Chédiak-Higashi Syndrome Panel
€29.00
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This product is only meant for customers who already purchased a Dante Genome Test
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.
The Chédiak-Higashi Syndrome Panel is suitable for individuals exhibiting clinical signs, symptoms, or familial suspicion of Chediak-Higashi Syndrome.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
List of main conditions:
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.
The Chédiak-Higashi Syndrome Panel is suitable for individuals exhibiting clinical signs, symptoms, or familial suspicion of Chediak-Higashi Syndrome.
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
- 1 gene
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
- Chédiak-Higashi Syndrome
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